| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 100/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_020299.3:c.669A>T | | NT_007933.14:g.59269221A>T |
| |
SNP Details are organized in the following sections:
The submission ss3301646 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2347382 during BLAST analysis for the current build.
>gnl|dbSNP|rs2347382|allelePos=490|totalLen=990|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=110 ACTCCAAGGG CATCACCGTT ACGGCCTACA GCCCCCTGGG CTCTCCGGAT AGACCTTGGT
GAGGCTTCCA AGTGGTGGGT CTTTCTCTTG ATAATCTTAA AAACATTATT TTATAATTGG
TAAATGTTGG TATGGGTCCA TAAGTTACTG GAAAGAAAAA TGTGTGTAAG GTAACACGTT
TGGTACACAC AAATGGGATG GCAGTGGGAA AAAATGGGAA TTAAACAACA ACAACAACAC
CAAGGGCGAC ATGCTTGACC CTCTGGGAAT ATTTCCAGTT CAGCCACCCA AGGGTGAACC
AGGCTTTGCA AAATGCTGAG GCTTCAGAGC CCGGGGAAAG GACCCAAGCT TCCAGGTCCT
CCTGCCTGTC TCCCAGATGG AGAGGCTCTG ATGATCAGTC TTGAGACCCT CATTGGAGTG
GTGTCCTTCT GTACATGGTA GCCATGGTGA TTATTCACAT CAGCATCTTT CTGCCCCTAG
GGCCAAGCC
W
GAAGACCCTT CCCTGCTGGA GGATCCCAAG ATTAAGGAGA TTGCTGCAAA GCACAAAAAA
ACCGCAGCCC AGGTGCCATA TTTTTATTTT TCTTGTTATC CAACAACTCA TTCTTCCAGT
CTCGTGTTTC ATATCCTGTG TTGTCCTCAA CAAACTCCTT AAAGGGGAAG AATATAGGAG
CTGAAGCCCT CTAAAGTGTT TCCTTTGAAG TCTGTTGGAA CCTCTAGGAA ACACAAGAGC
TGTCACTGAA GCAAAGATAG CTTCTGTCTC ACAGCTTCCT GTCAAGCCCT ACAGCCCAGT
GGCAAAGCAT GGCTTTGGAG TCTAGGGATA TGGGTGCAGA TGCCAACTCT ACCTCTGATC
AGCCTTATGA CCCCCAAGCT ACTTTCTTCA TTCCTAAAAA AGGAAGATCA CAGGGTTGTC
TCTAAGGTGA AGGGAGAGAA AGAGGTGGGG GTCTGGCACA AGTCTAATAG CTGTGAAGGG
CTCAGTAATT ATTAGCGATT
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 |
| 
