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Reference SNP (refSNP) Cluster Report: rs72657701                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/150
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMed  LitVarNEW gif
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:G=0.00008/1 (GO-ESP)
HGVS Names
  • NC_000016.10:g.16159494C>G
  • NC_000016.9:g.16253351C>G
  • NG_007558.2:g.68978G>C
  • NM_001171.5:c.3723G>C
  • NP_001162.4:p.Trp1241Cys
  • NT_187607.1:g.1817422C>G
  • XM_011522479.2:c.3690G>C
  • XM_011522480.1:c.3381G>C
  • XM_011522481.2:c.3381G>C
  • XM_017023212.1:c.3555G>C
  • XM_017023213.1:c.3381G>C
  • XP_011520781.1:p.Trp1230Cys
  • XP_011520782.1:p.Trp1127Cys
  • XP_011520783.1:p.Trp1127Cys
  • XP_016878701.1:p.Trp1185Cys
  • XP_016878702.1:p.Trp1127Cys
  • XR_243279.1:n.4140G>C
  • XR_932836.2:n.3904G>C
  • XR_932837.2:n.3703G>C
  • XR_932838.2:n.3704G>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 ss107794894 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs72657701 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
ss107794894ABCC6-LOVD|NM_001171.4:c.3723G>Cfwd/C/Ggtcagtggagcggatgcaggactatgcctgacgcccaaggaggtgatgggcgggaggtgg10/29/0805/22/09130Genomicunknown
ss713290864NHLBI-ESP|ESP6500SI-chr16-16253351rev/C/Gccacctcccgcccatcacctccttgggcgtcaggcatagtcctgcatccgctccactgac02/20/1302/20/13138Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs72657701|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=138
 AGGAGCTTGG AGTGGTTCTA AGTGTCATGG GAAATTGGTG GCCACCCAGT CGCTGCGAGA
 AAGCCGTCAG AATGGAATCA GTGGGCCTGG GTCCTGCTGT GTGTCCTTGG GAGGGCCACA
 CACCCTCTCT GATCCTGTCT ACTCACCTGC ATCAAGCCAG TTTGTACAAG CTGATGTCTG
 AGGGCTTCTT TTTGCTCTGC ATGCTCTGGT TCTACTGAAG GAAGAGAGGG ACCTGTTGGT
 TGTATCCAAA TCCCAATCCC CTGGGCCCAG GTCCTCAGAC TGTCCCATTC CTGCCTCCCC
 TCTTTACTCC CCTGGGTCTG GCCTCCCAGA AAAGGTTGGG AAACCAGGGG GGCTGTTGCA
 AGCCCTCAAG TGGCCTTGCC AAACCCAGCC AGAGAGGCTT TCTTGCACCA GGTGACCCAG
 ACACTGCAGT GGGTTGTTCG CAACTGGACA GACCTAGAGA ACAGCATCGT GTCAGTGGAG
 CGGATGCAGG ACTATGCCTG
 S
 ACGCCCAAGG AGGTGATGGG CGGGAGGTGG GGAGGGGGTC CCAGCAAGGA CATATTGTGG
 GGGGGGGCAA TGGGTCCCTG TTGACATCTG CTACAGGCTT TGGAGTTTAT ACCCTCTTCT
 CCCCTCACTC AACCCCCACC ACTATAGGTC AGAGTCACAG ACAGGGTGGC AGCAGTGGTT
 AGGAGCATAA GGTTTGGAGC CAGGCCAAAT CTTGGTTCCT TTGCTTCTGA GCTTGAGGAA
 AGCAGGTCAC CCATGGGAGT GCAGGGAACC ACAAGGAACA GCATTGCAAC AGCAACATAG
 CTGCAACATG ATAGTAACAT AATGGCAACA GCAACACAAT GGCAATATTC CAGAACATGA
 GAGTAATGCA ACAGCAATGT AACAGTAATG TAACAGCAAC ATAACCACAA TATTGCAGTA
 CCAGAATAGC AACATAGCAG TGTAATAGTA ACATAATAGA GACATTATAG TAACATGATG
 GCAACATTCC AGCAATACAA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
264800

  Population Diversity (Alleles in RefSNP orientation) Note: rs72657701 allele is reverse to the genome back to top
There is no frequency data.

  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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