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Reference SNP (refSNP) Cluster Report: rs13447378                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
NA
HGVS Names
  • CM000686.2:g.20579854G>C
  • NC_000024.10:g.20579854G>C
  • NC_000024.9:g.22741740G>C
  • NM_001278612.1:c.100+163G>C
  • NM_004681.3:c.100+163G>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 ss491581254 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13447378 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
ss23129251OEFNER|M285_M286_M287/1fwd/BC/Gtcctcatttctcatcatctacatttctccttacttgttcattaaataatgattccttggw03/29/0403/29/04121Genomicunknown
ss491581254EXOME_CHIP|chr.Y._297480_chr_Y_22741740fwd/C/Gtcctcatttctcatcatctacatttctccttacttgttcattaaataatgattccttgga03/05/1203/06/12137Genomicunknown
ss536855572ILLUMINA|HumanOmni5-4v1_B_rs13447378-131_B_F_1893927048fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc06/22/1205/19/16147Genomicunknown
ss778656367ILLUMINA|HumanOmni25Exome-8v1_A_rs13447378-131_B_F_1862670774fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc05/30/1307/09/15146Genomicunknown
ss780681824ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc05/30/1307/09/15146Genomicunknown
ss783355156ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc05/31/1306/19/15146Genomicunknown
ss834114308ILLUMINA|HumanOmni2.5-8v1_A_rs13447378-131_B_F_1862670774fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc09/18/1307/28/15146Genomicunknown
ss1399965396JOBLING_UOL|SNV12659fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc10/14/1410/14/14144Genomicunknown
ss1752815121ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc05/27/1506/09/15146Genomicunknown
ss1917716483ILLUMINA|HumanExome-12v1-1_B_exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc10/16/1510/16/15147Genomicunknown
ss1945970309ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc10/29/1510/29/15147Genomicunknown
ss1958181574ILLUMINA|exm-rs13447378-131_B_F_1990479458fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc11/13/1511/13/15147Genomicunknown
ss2321485214HUMAN_LONGEVITY|HLI-Y-20579854-G-Cfwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc11/18/1611/18/16150Genomicunknown
ss2634994840ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs13447378-131_B_F_1893927fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc02/02/1702/02/17151Genomicunknown
ss2711191764ILLUMINA|Consortium-OncoArray_15047405_A_chrY_22741740_C_G-100_T_R_219912fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc03/22/1703/22/17151Genomicunknown
ss2985494932AFFY|Axiom_PsorMich_Affx-35221278fwd/C/Gatttctcatcatctacatttctccttacttgttcattaaataatgattcc05/24/1705/24/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13447378|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 TGAAAAAAGA GAGTTGGTGT TTAAAGAGGA TGGACAAGGT AAGACTTTTC AACTTAGGCT
 TCTTTCATTA ATATGTTTTG TTGTTGCTGT TAATATAAAT TTCAGTCTTT CTCCTAAAGG
 AATCTTAATC ATTATCCTGA GCCGTTGTCC CTGTGTTTCC ATTTCTCTTT TCCTCATTTC
 TCATCATCTA CATTTCTCCT
 S
 TACTTGTTCA TTAAATAATG ATTCCTTGGA TATACCAAGT CTGGATAGCG GATTCGATGG
 AAGCATTTTT GTAAATATAC GTTCAGTATT TTGTGTGGAA GAACACAATC TAGCTGATGC
 CTGCAATCCC AGCCCTTTGG AAAGCGAGGT GGGTGGATTG CTTGAAGCTA CGAGTTTGAC
 ACTAGCCTGG GCAACAGGGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000024
dbSNP Blast Analysis

  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
byClusterUNKNOWNYESYES

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