| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 126/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP: single nucleotide polymorphism | | RefSNP Alleles: | C/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NT_011875.11:g.8329379G>A |
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SNP Details are organized in the following sections:
The submission ss43984393 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34283263 during BLAST analysis for the current build.
NCBI Assay ID | Handle|Submitter ID | Validation Status | ss to rs Orientation /Strand | Alleles | 5' Near Seq 30 bp | 3' Near Seq 30 bp | Entry Date | Update Date | Build Added | Molecule Type | Freq Warning | Ancestral Allele | Success Rate |
|---|
| ss43984393 | ABI|hCV33831110 |       | fwd/B | C/T | catgggatattagcttacagtaactgggta | tctgaccagcacctgttagtccttgagaca | 07/18/05 | 07/18/05 | 126 | Genomic | | | unknown | | ss75231584 | ILLUMINA|ILMN_Human_1M_rs34283263 |       | fwd/B | C/T | catgggatattagcttacagtaactgggta | tctgaccagcacctgttagtccttgagaca | 08/28/07 | 08/29/07 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs34283263|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 GTTTAAAGAA TCACCTTCAA AGTGACGGGC CTAGATCACA AGACATTTAG AAACTTTATT
TCAACTATGC TTGTCTTTCC ACTGCGTTAC TGAAATAGAG TATTTGTGTT TTTTCTCATA
CCCAACAGTT GGTTCTTCAG TAGCAGAGGT TAACTCCTCA GAGTTCCAGA GGTTATTACA
TCTGGATTCA GGGTCTGCAA GTCCACCAGA ACATTTCCAT TTTCTATTTG CACCTCACAA
AGTAAGCCTG AGTGTCTCCT GCCTGGACAC CATGGGATAT TAGCTTACAG TAACTGGGTA
Y
TCTGACCAGC ACCTGTTAGT CCTTGAGACA TTTGGGTTCA TCCTTTCAAA ACTAGAGTTC
TGCTCAAAAA AAAAAAAAAA GATGTCTATT CTGCTTTCAT TTCAGAGGAG AAAGTACTCA
ACCAGGGTTT GTTCTTCCCT TCACAGAAAT GTCCTGGCTT GTATCCAGCT GGAAGTTGCT
CCATTTTCTG GTTCTTTGGT GAAAAATCAG GTCTGGCGAT TTGAATTTAT CTATGAGCTG
CTTGCTTCTG CTTTATATGC GATTAGAAAA CACAGGAAGC AGTCATGGTC TCTACTATCC
GeneView via analysis of contig annotation:
View more variation on this gene (click to hide).
| Assembly |
SNP to Chr |
Chr |
Chr position |
Contig |
Contig position |
Allele |
| Function |
mRNA |
Protein |
| mRNA to Chr |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
GeneView via analysis of contig annotation: N/A.
GeneView via direct blast against RefSeq sequences (used when no gene model is available):
| Function |
Chr |
mRNA |
Protein |
| SNP to mRNA |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A
doesn't map to any assembly.
There is no frequency data.
| Validation status | Marker displays Mendelian segregation | PCR results confirmed in multiple reactions | Homozygotes detected in individual genotype data |       | UNKNOWN | UNKNOWN | UNKNOWN |
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