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searching for DbSNP 60 found (110 total)

alternate case: dbSNP

ALOX12 (3,928 words) [view diff] exact match in snippet view article find links to article

1021/bi992664v. PMID 10727209. "rs6502997". NCBI dbSNP. "rs312462". NCBI dbSNP. "rs6502998". NCBI dbSNP. "rs434473". NCBI dbSNP. Witola WH, Liu SR, Montpetit A, Welti

Functional element SNPs database (1,459 words) [view diff] exact match in snippet view article find links to article

database combines information from sources such as HapMap, UCSC GoldenPath, dbSNP, OMIM, and TRANSFAC. Users can obtain information about tag SNPs and simulate

P1PK blood group system (1,356 words) [view diff] exact match in snippet view article find links to article

by Laboratory Methods. 25th Ed. Philadelphia: Saunders, 2007: 618-68. "dbSNP: the NCBI database of genetic variation". Retrieved 2020-08-18. Yeh, Chih-Chun;

UCSC Genome Browser (1,641 words) [view diff] exact match in snippet view article find links to article

known variations. For example, the entire contents of each release of the dbSNP database from NCBI are mapped to human, mouse and other genomes. This includes

SNP annotation (4,230 words) [view diff] exact match in snippet view article find links to article

structural variants) on genes, transcripts, proteins and regulatory regions dbSNP, RefSeq, UniProt, COSMIC, PDBe, 1000 Genomes, gnomAD, PubMed https://www

Pharmacogenomics (6,670 words) [view diff] case mismatch in snippet view article find links to article

PMID 23824865.{{cite book}}: CS1 maint: location missing publisher (link) "DBSNP Home Page". National Center for Biotechnology Information, U.S. National

Minor allele frequency (357 words) [view diff] exact match in snippet view article find links to article

reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0

Alpha-1 antitrypsin deficiency (2,878 words) [view diff] exact match in snippet view article find links to article

mutation at position 342 (dbSNP: rs28929474), while PiS is caused by a glutamic acid to valine mutation at position 264 (dbSNP: rs17580). Other rarer forms

ELF5 (761 words) [view diff] exact match in snippet view article find links to article

18 (1). 4. doi:10.1186/s13058-015-0666-0. PMC 4704400. PMID 26738740. "dbSNP Short Genetic Variations: rs61882275". Retrieved January 21, 2022. Kousathanas

Allele (1,895 words) [view diff] exact match in snippet view article find links to article

; Sirotkin, Karl; Ward, Minghong; Sherry, Stephen T. (1 January 2000). "dbSNP: a database of single nucleotide polymorphisms". Nucleic Acids Research

Arachidonate 5-lipoxygenase (7,548 words) [view diff] exact match in snippet view article find links to article

rs4948672". NCBI dbSNP. "Reference SNP (refSNP) Cluster Report: rs1565096". NCBI dbSNP. "Reference SNP (refSNP) Cluster Report: rs7894352". NCBI dbSNP. Dwyer JH

TAS2R46 (1,116 words) [view diff] exact match in snippet view article find links to article

Receptor Location BW number Residue MAF dbSNP TAS2R46 IC3 L228M 0.3359 rs2708380

Haplogroup R-Z18 (668 words) [view diff] exact match in snippet view article find links to article

1000 Genomes Project and entered on 16 August 2014 into the SNP database dbSNP at the National Center for Biotechnology Information as reference SNP cluster

SNP array (1,774 words) [view diff] exact match in snippet view article find links to article

known as genomic selection. Crop-specific arrays find use in agriculture. "dbSNP Summary". www.ncbi.nlm.nih.gov. Retrieved 4 October 2017. The 1000 Genomes

Immunoreceptor tyrosine-based activation motif (1,273 words) [view diff] exact match in snippet view article find links to article

Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K (January 2001). "dbSNP: the NCBI database of genetic variation". Nucleic Acids Research. 29 (1):

Prostaglandin EP3 receptor (4,418 words) [view diff] case mismatch in snippet view article find links to article

0b013e31826a7f41. PMID 23038037. S2CID 2468341. "Rs11209716 RefSNP Report - DBSNP - NCBI". Maher SA, Dubuis ED, Belvisi MG (June 2011). "G-protein coupled

Prostaglandin EP2 receptor (3,685 words) [view diff] case mismatch in snippet view article find links to article

PMC 5341220. PMID 26377664. "Rs17197 RefSNP Report - DBSNP - NCBI". "Rs1254598 RefSNP Report - DBSNP - NCBI". Cornejo-García JA, Perkins JR, Jurado-Escobar

David J. Lipman (1,210 words) [view diff] exact match in snippet view article find links to article

and medical databases including GenBank, PubMed, PubMed Central, dbGaP, dbSNP, the Sequence Read Archive (SRA), RefSeq, PubChem, and many more. The internal

Minimotif Miner (746 words) [view diff] exact match in snippet view article find links to article

using the view single nucleotide polymorphism (SNP) function, SNPs from dbSNP are mapped in the sequence window. A user can select any set of the SNPs

TAS2R14 (1,955 words) [view diff] exact match in snippet view article find links to article

Common TAS2R14 SNPs location Mutation dbSNP I5M rs79297986 F63L rs142263768 C67S rs140545738 T86A rs16925868 N87Y rs146833217 I118V rs4140968 F198L rs202123922

Hemoglobinopathy (2,202 words) [view diff] exact match in snippet view article find links to article

Chemistry, Vol. 243, No. 5, Issue of March 10, pages 980–991. "rs33948057". dbSNP. National Center for Biotechnology Information. Retrieved 7 February 2014

IGFBP7 (2,499 words) [view diff] exact match in snippet view article find links to article

editing sites were previously recorded as single nucleotide polymorphisms in dbSNP. A to I RNA editing is catalyzed by a family of adenosine deaminases acting

Proteome (2,993 words) [view diff] exact match in snippet view article find links to article

000 validated nonsynonymous cSNPs currently housed within SwissProt. In dbSNP, there are 4.7 million candidate cSNPs, yet only ~670,000 cSNPs have been

Tag SNP (3,150 words) [view diff] exact match in snippet view article find links to article

0090. PMC 3125548. PMID 21348634. dbSNP Data Statistics. National Center for Biotechnology Information (US). 2005. "dbSNP Summary". Tarvo, Alex. "Tutorial

LSMEM1 (917 words) [view diff] exact match in snippet view article find links to article

3.3686F. doi:10.1371/journal.pone.0003686. PMC 2579334. PMID 18997871. "dbSNP Short Genetic Variations". National Center for Biotechnology Information

WWC1 (1,113 words) [view diff] exact match in snippet view article find links to article

PMID 12559952. "Entrez Gene: WWC1 WW and C2 domain containing 1". "dbSNP: rs17070145". Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner

Cancer systems biology (3,587 words) [view diff] exact match in snippet view article find links to article

names: authors list (link) "Home - dbGaP - NCBI". www.ncbi.nlm.nih.gov. "dbSNP Home Page". www.ncbi.nlm.nih.gov. "KEGG PATHWAY Database". www.genome.jp

Open Regulatory Annotation Database (1,114 words) [view diff] exact match in snippet view article find links to article

haplotypes. For each entry, cross-references are maintained to EnsEMBL, dbSNP, Entrez Gene, the NCBI Taxonomy database and PubMed. The information within

Norepinephrine transporter (3,397 words) [view diff] exact match in snippet view article find links to article

Suppl): 60–6. doi:10.1177/1359786806066055. PMID 16785272. S2CID 10728780. dbSNP Stöber G, Nöthen MM, Pörzgen P, Brüss M, Bönisch H, Knapp M, Beckmann H

Frameshift mutation (4,724 words) [view diff] exact match in snippet view article find links to article

U.S. National Library of Medicine Medical Subject Headings (MeSH) NCBI dbSNP database — "a central repository for both single base nucleotide substitutions

Methylenetetrahydrofolate reductase (3,737 words) [view diff] exact match in snippet view article find links to article

doi:10.1038/gim.2012.165. PMID 23288205. S2CID 12461781. "rs1801133". dbSNP. National Library of Medicine. Retrieved 26 April 2023. Schneider JA, Rees

ApoA-I Milano (1,491 words) [view diff] exact match in snippet view article find links to article

doi:10.1016/S0021-9258(18)32955-7. PMID 6401735. "rs28931573 RefSNP Report". dbSNP - NCBI. Wang L., Tian F., Arias A., Yang M., Sharifi B. G., Shah P. K. (2015)

Transmembrane protein 251 (1,086 words) [view diff] exact match in snippet view article find links to article

May 2015. "SOSUI". SOSUI. Harrier Nagahama. Retrieved 10 May 2015. "NCBI dbSNP". NCBI. National Center for Biotechnology Information. Retrieved 10 May

Ancestry-informative marker (1,588 words) [view diff] exact match in snippet view article find links to article

biogeographical ancestry and admixture mapping," Hum. Genet. 112, 387-399 (2003) SNP Science Primer [1] dbSNP Summary [2] Explanation from DNAPrint Genomics

SPATS1 (957 words) [view diff] exact match in snippet view article find links to article

mRNA - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-20. "dbSNP Short Genetic Variations". NCBI. Retrieved April 23, 2017. "UniProtKB -

C4orf36 (1,130 words) [view diff] exact match in snippet view article find links to article

dbSNP rs# Cluster ID Mutation Function rs149531474 M1T No protein rs1200223723 P70L Missense rs201168053 E78* Nonsense rs908052987 L86P Missense rs762808044

CYFIP2 (1,681 words) [view diff] exact match in snippet view article find links to article

previously recorded as a single nucleotide polymorphism (rs3207362) in the dbSNP. A to I RNA editing is catalyzed by a family of adenosine deaminases acting

GATA1 (5,532 words) [view diff] case mismatch in snippet view article find links to article

3324/haematol.2016.162966. PMC 5685218. PMID 28550189. "Rs113966884 RefSNP Report - DBSNP - NCBI". Nurden AT, Nurden P (July 2016). "Should any genetic defect affecting

SHOC1 (1,043 words) [view diff] exact match in snippet view article find links to article

link] "SNP linked to Gene (geneID:158401) Via Contig Annotation". NCBI dbSNP. "PELE". SDSC Biology WorkBench.[permanent dead link] "PSORTII". PSORT.

INAVA (1,225 words) [view diff] exact match in snippet view article find links to article

March 2014. "SDSC Biology Workbench: ClustalW". Retrieved 12 March 2014. "dbSNP". Retrieved 22 April 2014. Rivas MA; et al. (2011). "Deep resequencing of

Familial natural short sleep (4,166 words) [view diff] exact match in snippet view article find links to article

ISSN 0036-8075. PMC 2884988. PMID 19679812. "rs121912617 RefSNP Report - dbSNP - NCBI". dbSNP. "rs121912617 - SNPedia". www.snpedia.com. Retrieved 2022-10-14.

LOC105377021 (1,220 words) [view diff] exact match in snippet view article find links to article

Biotechnology Information". www.ncbi.nlm.nih.gov. Retrieved 2016-05-03. "dbSNP Home Page". www.ncbi.nlm.nih.gov. Retrieved 2016-05-03. "Genomatix - NGS

CXorf66 (1,689 words) [view diff] exact match in snippet view article find links to article

2015-03-11.{{cite journal}}: CS1 maint: multiple names: authors list (link) "dbSNP". Conserved Domain Database. National Center for Biotechnology Information

Human skin color (13,093 words) [view diff] exact match in snippet view article find links to article

1371/journal.pone.0042752. PMC 3418284. PMID 22912732. "rs16891982 RefSNP Report - dbSNP - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-02. Adhikari, Kaustubh

HIKESHI (2,029 words) [view diff] exact match in snippet view article find links to article

Function dbSNP Allele Protein Residue Codon Position Amino Acid Position Reference C Proline [P] 1 47 Missense G Alanine [A] 1 47

C3orf70 (1,187 words) [view diff] exact match in snippet view article find links to article

characterization and annotation". Nucleic Acids Res. Retrieved 2015-04-19. "dbSNP". Conserved Domain Database. National Center for Biotechnology Information

Hemoglobin variants (1,172 words) [view diff] exact match in snippet view article find links to article

980–91. doi:10.1016/S0021-9258(18)93612-4. PMID 5640981. "rs33948057". dbSNP. National Center for Biotechnology Information. Retrieved 7 February 2014

EPHX1 (2,998 words) [view diff] exact match in snippet view article find links to article

Med. 322 (22): 1567–72. doi:10.1056/NEJM199005313222204. PMID 2336087. "dbSNP". Retrieved 29 December 2014. Hassett C, Aicher L, Sidhu JS, Omiecinski

C22orf23 (1,794 words) [view diff] exact match in snippet view article find links to article

Experimental Pathology. 84 (6): 267–79. doi:10.1111/j.0959-9673.2003.00362.x. PMC 2517572. PMID 14748746. "dbSNP Short Genetic Variations". NCBI. 2019-05-05.

Anton Yuryev (2,036 words) [view diff] exact match in snippet view article find links to article

single nucleotide polymorphisms from several databases and consecutive dbSNP builds Edvardsen H, Irene Grenaker Alnaes G, Tsalenko A, Mulcahy T, Yuryev

C19orf22 (842 words) [view diff] exact match in snippet view article find links to article

doi:10.31557/APJCP.2020.21.11.3199. PMC 8033114. PMID 33247676. "NCBI dbSNP". Journal articles that can provide more insight: The DNA sequence and biology

TMEM128 (2,036 words) [view diff] exact match in snippet view article find links to article

Key SNPs of TMEM128 mRNA Position Amino Acid Position dbSNP rs# Reference Allele SNP Allele Function 169 43 rs771177507 A C Missense 186 49 rs146625911

Proser2 (1,894 words) [view diff] exact match in snippet view article find links to article

Genomatix. ElDorado.[https://www.genomatix.de/cgi-bin//eldorado/eldorado.pl] dbSNP NCBI (National Center for Biotechnology Information Basic Local Alignment

Elective genetic and genomic testing (5,081 words) [view diff] exact match in snippet view article find links to article

Home Reference Guide to Interpreting Genomic Reports: A Genomics Toolkit dbSNP (a public-domain archive for a broad collection of simple genetic polymorphisms)

Epitranscriptomic sequencing (6,384 words) [view diff] exact match in snippet view article find links to article

with a step to reduce false positives by comparison to online database dbSNP. The original ICE protocol involved an RT-PCR amplification step and therefore

Adolescent idiopathic scoliosis (4,807 words) [view diff] exact match in snippet view article find links to article

by the researchers consisted of coding variants that were absent on the dbSNP database and caused insertions, deletions, frameshift, splice-site, or missense

SMIM19 (2,273 words) [view diff] exact match in snippet view article find links to article

results below are based on the output of accession NM_001135674.1 analysis on dbSNP Short Genetic Variation and were selected based on their location in significant

Interferon Lambda 4 (6,064 words) [view diff] exact match in snippet view article find links to article

rs11322783 and rs74597329 all provide the same information. In the NCBI dbSNP database, rs368234815 been merged into rs11322783. In the Genome Aggregation

SLC46A3 (6,550 words) [view diff] exact match in snippet view article find links to article

Contig Annotation". NCBI (National Center for Biotechnology Information) dbSNP Short Genetic Variations. Wong CC, Martincorena I, Rust AG, Rashid M, Alifrangis

TMEM211 (9,001 words) [view diff] exact match in snippet view article find links to article

PMID 31218344. Sherry, Stephen T.; Ward, Minghong; Sirotkin, Karl (1 August 1999). "dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor