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Reference SNP (refSNP) Cluster Report: rs75791663                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.000008/1 (ExAC)
A=0.000008/1 (TOPMED)
HGVS Names
  • CM000666.2:g.73415120G>A
  • NC_000004.11:g.74280837G>A
  • NC_000004.12:g.73415120G>A
  • NG_009291.1:g.15866G>A
  • NM_000477.6:c.1144G>A
  • NP_000468.1:p.Glu382Lys
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss140406463 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs75791663 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss140406463NCBI-CURATED-RECORDS|CoariIfwd/TA/Gagacttgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcctcatg05/20/0905/22/09131Genomicunknown
ss515140403OMIM-CURATED-RECORDS|150fwd/TA/Gagacttgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcctcatg04/20/1204/20/12136Genomicunknown
ss1687528498EVA_EXAC|EVA_EXAC_2491611fwd/A/Gtgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcc03/04/1503/04/15144Genomicunknown
ss2734563670GNOMAD|exomes_rs75791663fwd/A/Gtgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcc05/17/1705/17/17151Genomicunknown
ss2747253598GNOMAD|coding_rs75791663fwd/A/Gtgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcc05/17/1705/17/17151Genomicunknown
ss2810791686GNOMAD|rs75791663fwd/A/Gtgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcc05/18/1705/18/17151Genomicunknown
ss3432494641TOPMED|TOPMed_freeze_5?chr4:73,415,120fwd/A/Gtgccaagacatatgaaaccactctaagaagtgctgtgccgctgcagatcc10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs75791663|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TAATTTTGTA TTTTTAGTAG AGATGGGGTT TCACCATGTT GGTCAGACTG GTCTCAAACT
 CCTGACCTCT GGTGATATGC CTGCCTCAGC CTCCTAAAGT GCTGGGATTA CAGGCATGAG
 CCACTGTGCC CAGCCGACAG ATACTATTAT TATTTCCATT CTACCGAGAA GGAGACTAAG
 GCTCTGATCA TTTAAATAAG TTGCCTAAGG TGATGCAGTG ATATAAGTAG CAGAGCTAGG
 AATTGAGCCT TGGTAACTTT AACTCTGGAC CCCAAGTCCT TAGCTACTAA GCTTTACTGC
 ATGGGGTTTA GTCAAATTAA GACTTTTGGA ATATGAGTTA CTTTTGAGAT TAGCTTTGTG
 ATATTTTTTG TGCTCATTTG TCCAACAAAG TCTATTTTAT TTTCATCTTA ATTAGGTTTT
 TGTATGAATA TGCAAGAAGG CATCCTGATT ACTCTGTCGT GCTGCTGCTG AGACTTGCCA
 AGACATATGA AACCACTCTA
 R
 AGAAGTGCTG TGCCGCTGCA GATCCTCATG AATGCTATGC CAAAGTGGTA GGTTTATTGT
 TGGAAAAAAA TGTAGTTCTT TGACTGATGA TTCCAATAAT GAGAAAGAAA AATAATGCAA
 GAATGTAAAA TGATATACAG TGCAATTTAG ATCTTTTCTT GAGATGGTTT CAATTCTGGA
 ATCTTAAACA TGAAAGAAAA AGTAGCCTTA GAATGATTAA CAAAATTTAG ACTAGTTAGA
 ATAGAAAGAT CTGAATAGAG CAATCTCTAA AAAATTTTGA TCTTTTTTTC TCTTTTTCAC
 AATCCTGAGA ACAAAAAAAA ATTAAATTTA AATGTTAATT AGAAGATATT TAACTTAGAT
 GTAAAGTGAG TTAACCTGAT TCCAGGATTA ATCAAGTACT AGAATTAGTA TCTTATGGCA
 AATTATAGAA CCTATCCCTT TAGAATATTT TCAAATCTTT TTGAGGATGT TTAGGAATAG
 TTTTACAAGA AATTAAGTTA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000468  
OMIM
103600.0013

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1687528498ExAc_Aggregated_Populations121408AF 0.000008240.99999177

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN

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