NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs62641235                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.18575423T>C
  • NC_000023.10:g.18593543T>A
  • NC_000023.10:g.18593543T>C
  • NC_000023.11:g.18575423T>A
  • NC_000023.11:g.18575423T>C
  • NG_008475.1:g.154819T>A
  • NG_008475.1:g.154819T>C
  • NM_001037343.1:c.215T>A
  • NM_001037343.1:c.215T>C
  • NM_001323289.1:c.215T>A
  • NM_001323289.1:c.215T>C
  • NM_003159.2:c.215T>A
  • NM_003159.2:c.215T>C
  • NP_001032420.1:p.Ile72Asn
  • NP_001032420.1:p.Ile72Thr
  • NP_001310218.1:p.Ile72Asn
  • NP_001310218.1:p.Ile72Thr
  • NP_003150.1:p.Ile72Asn
  • NP_003150.1:p.Ile72Thr
  • XP_005274641.1:p.Ile72Asn
  • XP_005274641.1:p.Ile72Thr
  • XP_005274642.1:p.Ile72Asn
  • XP_005274642.1:p.Ile72Thr
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 ss289110642 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs62641235 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
ss289110642OMIM-CURATED-RECORDS|6911fwd/BC/Taaatgcttcggactctcaagcaggaaaacatgtggagttgaaggaagcatttcgtcggag12/27/1012/27/10133Genomicunknown
ss538296384CHWRETT|CDKL5: c.215T>Afwd/A/Taaatgcttcggactctcaagcaggaaaacatgtggagttgaaggaagcatttcgtcggag08/08/1208/08/12137Genomicunknown
ss538296387CHWRETT|CDKL5: c.215T>Cfwd/BC/Taaatgcttcggactctcaagcaggaaaacatgtggagttgaaggaagcatttcgtcggag08/08/1208/08/12137Genomicunknown
ss1958178773ILLUMINA|X:18593543-T-C-0_B_F_2304285299fwd/BC/Tcttcggactctcaagcaggaaaacatgtggagttgaaggaagcatttcgt11/13/1511/13/15147Genomicunknown
ss3022993127ILLUMINA|MEGA_Consortium_v2_15070954_A2_X:18593543-T-C-0_B_F_2304285299fwd/C/Tcttcggactctcaagcaggaaaacatgtggagttgaaggaagcatttcgt06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs62641235|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 TTTCTTATTC TTGATCCTTT CAACAAGAAA ACGTGTTATT TAATATTCCA TTCTTGTACT
 TCTTATGCAG AAGTACTCAA AGCAGAAGGT GAAATTGGGA TGTTTTCAGT GTTCTTGGAA
 TTCTTTGAAT AGTAGCTTGA AAGTTTTCAT TTTAGTCTCT TCACCATTGT TTACATTCTA
 GAAAATGAAG AAGTCAAAGA AACGACTTTA CGAGAGCTTA AAATGCTTCG GACTCTCAAG
 CAGGAAAACA
 H
 TGTGGAGTTG AAGGAAGCAT TTCGTCGGAG GGGAAAGTTG TACTTGGTGT TTGAGTATGT
 TGAAAAAGTA AGTCATTAAT TGCCAATGTG CACATTTGCC CGATTCTTTT ATTTAAGGCT
 GTTTCTGACA TTATTTAAGA AAGTACTGTT ATCTAATATG GCTTATCAAT GTACTCATAA
 TCTGAGGACT TTAAAAATGA AAGTGTTGTT AATAATCATT AGAAATTCTG AAATATATTT
 AAGAATTTTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_001032420  NP_003150  
OMIM
300203.0010

  Population Diversity (Alleles in RefSNP orientation) 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