NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs79020217                 ** With Pathogenic 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:C/G (REV)
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000668.2:g.29672739G>C
  • NC_000006.11:g.29640516G>C
  • NC_000006.12:g.29672739G>C
  • NG_013045.1:g.9416C>G
  • NG_031873.1:g.20759G>C
  • NM_001008228.2:c.*1554G>C
  • NM_001008229.2:c.*1289G>C
  • NM_001109809.2:c.1372C>G
  • NM_001170418.1:c.*1554G>C
  • NM_002433.4:c.*1289G>C
  • NM_206809.3:c.*1554G>C
  • NM_206810.3:c.*1289G>C
  • NM_206811.3:c.*1289G>C
  • NM_206812.3:c.*1554G>C
  • NM_206814.5:c.*1554G>C
  • NP_001103279.2:p.His458Asp
  • NT_113891.2:g.1159318G>C
  • NT_113891.3:g.1159212G>C
  • NT_167244.1:g.944041G>C
  • NT_167244.2:g.938447G>C
  • NT_167245.1:g.943870G>C
  • NT_167245.2:g.938285G>C
  • NT_167246.1:g.943473G>C
  • NT_167246.2:g.937853G>C
  • NT_167247.1:g.943698G>C
  • NT_167247.2:g.938113G>C
  • NT_167248.1:g.943836G>C
  • NT_167248.2:g.938240G>C
  • NT_167249.1:g.981069G>C
  • NT_167249.2:g.981771G>C
  • XP_006715150.1:p.His386Asp
  • XP_011512872.1:p.His458Asp
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 ss130456754 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs79020217 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
ss130456754OMIM-CURATED-RECORDS|NP_001103279.1:p.HIS438ASPfwd/C/Gtcctttggggagaaagagggccttatggatactggaggggctataaaggcaaggacctgt04/24/0905/22/09131Genomicunknown
ss252841665OMIM-CURATED-RECORDS|17221fwd/C/Gtcctttggggagaaagagggccttatggatactggaggggctataaaggcaaggacctgt08/12/1008/12/10136Genomicunknown
ss1958877193ILLUMINA|6:29640516-C-G-0_B_F_2304279257rev/C/Gtccttgcctttatagcccctccagtatccataaggccctctttctcccca11/13/1511/13/15147Genomicunknown
ss3022589375ILLUMINA|MEGA_Consortium_v2_15070954_A2_6:29640516-C-G-0_B_F_2304279257rev/C/Gtccttgcctttatagcccctccagtatccataaggccctctttctcccca06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs79020217|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 AGGAGTGTAC TTTGAGGATT CCAGGCACCC AGGCTGAATT CCAGACACCC ATCGCCAGAA
 GCCAGAGGTC CATCCAGGGG CTTTTGGATG TGAACCATGC ACCAGTGGCC AGGTCCCAGG
 AACCCATATT TAGAACTGAG GGTCCTATGG CCCAGAACCA GGCATCTGTA CTTAAGAACC
 AAGCACCTGT GACCAGGACC CAGGCACCCA TCACTGGAAC CCTCTGTCAG GATGCCAGAT
 CCAACTCTCA TCCAGTGAAG CCCTCAAGAC TCAATGTCTT CTGTTGCCCC CATTGTTCTT
 TGACTTTTAG CAAGAAATCC TATCTCTCCA GACACCAGAA GGCCCACCTC ACAGAGCCGC
 CCAACTACTG CTTCCATTGC AGCAAGTCTT TCAGCTCATT TTCCAGGCTG GTCAGACACC
 AGCAGACCCA CTGGAAGCAG AAGAGCTACC TTTGCCCTAT CTGTGACCTC TCCTTTGGGG
 AGAAAGAGGG CCTTATGGAT
 S
 ACTGGAGGGG CTATAAAGGC AAGGACCTGT GCCAGAGCAG CCACCATAAA TGCCGGGTGA
 TCCTGGGCCA GTGGCTTGGC TTCTCTCATG ATGTCCCCAC TATGGCTGGG GAGGAATGGA
 AGCATGGAGG TGATCAATCT CCCCCCAGGA TCCATACCCC CAGGAGAAGA GGCCTAAGAG
 AGAAGGCCTG CAAAGGAGAC AAAACAAAGG AGGCAGTGAG CATCTTGAAA CATAAATAAA
 TGGCCTTTCT GACTGAGCTC TTTCTTTGTG TTTAGTTTTC CTGAGGACTG ACCTCTGGGG
 TAATGAGGCT GGAGTAGAGG GAGACAGGTG CGTGGATAAG GAAGGAAATA CATAAAAGAC
 AAGGGGTTAG AAGTGTGCTT ATGAAAACTT GTATTATTAT TTTTTATTTA TTTATTTATT
 TATTTATTTA TTTATTTATT TATTTATTTT TGAGACAGAG TCTTACTCTG TCACTCCGGC
 TAGAGTGCAG TGGCACGATC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
612192.0004

  Population Diversity (Alleles in RefSNP orientation) Note: rs79020217 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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement