| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 127/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | G/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.1557T>G | | NM_000550.2:c.1557T>G | | NP_000541.1:p.Tyr519X | | NT_008413.17:g.12699125T>G |
| |
SNP Details are organized in the following sections:
The submission ss61706423 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41302073 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 |
|---|
| ss61706423 | SI_EXO|NT_008413.16_12699125 |  | fwd/B | G/T | agctaaccagcctctcctcactgatcagta | caatgctatgctgaagaatatgaaaaactc | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs41302073|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=127 TGGGTAAGTG ACTCAGACTC ATTGAGTCAT CATTCTCTCA CTTTCACAAA ATGAAATGGA
AATAACAATG ACTATCCCAA TAGGGTCCAC TCATTAAAAG AAATCAGGAA GTGGCTTCAA
GGCCATGTGG CCAATGTAAA TTAAATATGA GGATTTCTGT TAAAATAGAC ATTTCTAAAT
TTCATCTGTC CACTTTTTGG TGATAACTAT TTTAATATTT GTCTTTTTAT TTTTATCTTC
CTTTCCAAAT AGGTCGGGAG TTTAGTGTAC CTGAGATAAT TGCCATAGCA GTAGTTGGCG
CTTTGTTACT GGTTGCACTC ATTTTTGGGA CTGCTTCTTA TCTGATTCGT GCCAGACGCA
GTATGGATGA AGCTAACCAG CCTCTCCTCA CTGATCAGTA
K
CAATGCTATG CTGAAGAATA TGAAAAACTC CAGAATCCTA ATCAGTCTGT GGTCTAACAA
ATGCCCTACT CTCTTATGCA TTAGTATCAC AAAACCACCT GGTTGAATAT AATAGATTGA
GTTATTAACT GTATTTTCTT TCACTTTATT ACCTTCTTTC TAATACAAGC ATATGTTAGC
ATTAAAGTTC TAGGCATACT TTTCAAAGCT GGGAAGACCC TTTCAGAATC TTTTCAATGG
GTTTTAATTT TCAGTTCTAT TTAAAATGGT GAATGACACT AAACTCCATG ATATTTAAGG
ATAGTGTGAA GATCTTTGGC ATGATTTAAA GGTTGAGTAT GTGAAGATAT AAGTAAGTGA
ACTACCATGC TTTGTTTACG TGTAAAGGAA AATAATGTTT
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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