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Reference SNP (refSNP) Cluster Report: rs41302032                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/151
Map to Genome Build:108/Weight 1
Validation Status:byFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.000009/1 (ExAC)
A=0.00009/11 (TOPMED)
HGVS Names
  • CM000663.2:g.25284625G>A
  • CM000663.2:g.25284625G>C
  • NC_000001.10:g.25611116G>A
  • NC_000001.11:g.25284625G>A
  • NC_000001.11:g.25284625G>C
  • NG_007494.1:g.17136G>A
  • NG_007494.1:g.17136G>C
  • NM_001127691.2:c.201G>A
  • NM_001127691.2:c.201G>C
  • NM_001282867.1:c.-294G>A
  • NM_001282867.1:c.-294G>C
  • NM_001282868.1:c.201G>A
  • NM_001282868.1:c.201G>C
  • NM_001282869.1:c.201G>A
  • NM_001282869.1:c.201G>C
  • NM_001282870.1:c.201G>A
  • NM_001282870.1:c.201G>C
  • NM_001282871.1:c.201G>A
  • NM_001282871.1:c.201G>C
  • NM_001282872.1:c.201G>A
  • NM_001282872.1:c.201G>C
  • NM_001321772.1:c.-66-37596C>G
  • NM_001321772.1:c.-66-37596C>T
  • NM_016124.4:c.201G>A
  • NM_016124.4:c.201G>C
  • NP_001121163.1:p.Ser67=
  • NP_001269797.1:p.Ser67=
  • NP_001269798.1:p.Ser67=
  • NP_001269799.1:p.Ser67=
  • NP_001269800.1:p.Ser67=
  • NP_001269801.1:p.Ser67=
  • NP_057208.2:p.Ser67=
  • NR_135787.1:n.1216-37596C>G
  • NR_135787.1:n.1216-37596C>T
  • NR_135788.1:n.278-37596C>G
  • NR_135788.1:n.278-37596C>T
  • NR_135789.1:n.1216-37596C>G
  • NR_135789.1:n.1216-37596C>T
  • XP_005246016.1:p.Ser67=
  • XP_005246017.1:p.Ser67=
  • XP_005246018.1:p.Ser67=
  • XP_005246019.1:p.Ser67=
  • XP_005246020.1:p.Ser67=
  • XP_005246021.1:p.Ser67=
  • XP_016857504.1:p.Ser67=
  • XR_946736.1:n.356G>A
  • XR_946736.1:n.356G>C
  • XR_946737.1:n.356G>A
  • XR_946737.1:n.356G>C
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 ss61706878 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41302032 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
ss1530452LEE|534206fwd/TA/Gggcggccattggcttgggcttcctcacctcagtttccggagacacagctggagcagtgtg09/13/0010/10/03147cDNAunknown
ss4419864LEE|e534206fwd/TA/Gggcggccattggcttgggcttcctcacctcagtttccggagacacagctggagcagtgtg04/26/0210/10/03147cDNAunknown
ss61706878SI_EXO|NT_004610.17_8435468fwd/TA/Gggcggccattggcttgggcttcctcacctcagtttccggagacacagctggagcagtgtg07/11/0608/17/06127Genomicunknown
ss1685398664EVA_EXAC|EVA_EXAC_194471fwd/C/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca03/04/1503/04/15144Genomicunknown
ss1685398665EVA_EXAC|EVA_EXAC_194472fwd/A/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca03/04/1503/04/15144Genomicunknown
ss2731264600GNOMAD|exomes_rs41302032fwd/A/C/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca05/17/1705/17/17151Genomicunknown
ss2746262053GNOMAD|coding_rs41302032fwd/A/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca05/17/1705/17/17151Genomicunknown
ss2752821592GNOMAD|rs41302032fwd/A/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca05/17/1705/17/17151Genomicunknown
ss3071291164TOPMED|TOPMed_freeze_5?chr1:25,284,625fwd/A/Gccattggcttgggcttcctcacctcagtttccggagacacagctggagca09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs41302032|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 GTCCATGTGC GTCAAGCACG TGTGCTTTAC ACTTGTTCTT ATTATTAGGT TTAATAATAG
 AATAATTGCC ACATTTACTG AGCACTCATT ATGGGCCAGG CCCTGCCCTA AGTGCTTAAT
 TAGCTTTAGC TCCTCTAATC CTTATCTTAT CCCCACACGG CATGTTATGT TATCCCCATT
 ATTCAGTTGA GAACATTGAG GCTCAAAGAG GCAAAGTAAC TTGACCAAAT ACTTGTAAAC
 GATCTTGCAT GCCCCTTCCA GCTGCCATTT AGTAAGACTC TAATTTCATA CCACCCTAAA
 TCTCGTCTGC TTCCCCCTCG TCCTTCTCGC CATCTCCCCA CCGAGCAGTT GGCCAAGATC
 TGACCGTGAT GGCGGCCATT GGCTTGGGCT TCCTCACCTC
 V
 AGTTTCCGGA GACACAGCTG GAGCAGTGTG GCCTTCAACC TCTTCATGCT GGCGCTTGGT
 GTGCAGTGGG CAATCCTGCT GGACGGCTTC CTGAGCCAGT TCCCTTCTGG GAAGGTGGTC
 ATCACACTGT TCAGGTATTG GGATGGTGGC TGGATCACTT CTGGGTCATA GAGGGAATGG
 ACCCCGAAAG GACAGGTTCC AGAAGATCTG GGATATTGCC CCCTCTCTGT CTAGCACCAG
 TGCTGTGCAA TATTTAGGAC ATCCTTATAC TAAAAGATTA TTCATTGTTT AAAATTCAAA
 TTAACTGGGC ATCCTGTATT TTACTGGACA GCCCTACTCC GTGTATCACA AGGAATCCAG
 GCCTACATTC CTCCTGCATC CTTTCTTTCC TGTTATTGTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X54534 Hs.108380
dbSNP Blast Analysis
3D structure mapping
NP_001121163  NP_057208  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
G
ss1685398664ExAc_Aggregated_Populations111115AF 0.000009000.99999100
ss1685398665ExAc_Aggregated_Populations111115AF 0.00000900 0.99999100

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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