| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 126/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | DIP: deletion/insertion polymorphism | | RefSNP Alleles: | -/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.1042delT | | NM_000550.2:c.1042delT | | NP_000541.1:p.Tyr348fx | | NT_008413.17:g.12692399delT |
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SNP Details are organized in the following sections:
The submission ss43376091 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35517777 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 |
|---|
| ss43376091 | ABI|hCV33355952 |       | fwd/ | -/T | gaagttggtttatttgacacgcctcctttt | attccaactctacaaacagtttccgaaaca | 07/18/05 | 07/18/05 | 126 | Genomic | | | unknown |
>gnl|dbSNP|rs35517777|allelePos=301|totalLen=601|taxid=9606|snpclass=2|alleles='-/T'|mol=Genomic|build=126 ATGGTAACTT AGATTTTCTC ATTTTAATGC TACCAAGTAT GCATTTTTAA ATTTTCTTTT
CTACCAAGGA AAACCTATAT TTCATATTCA TGCTATGTAT AAAGTTTTAA AGAGCGACAA
TAAGAACTCC AAACATTGTG TAAATGTTTC CACATCCCAT TTTTTTCTGC AGGCACCGAG
GATGGGCCAA TTAGGAGAAA TCCAGCTGGA AATGTGGCCA GACCAATGGT GCAACGTCTT
CCTGAACCAC AGGATGTCGC TCAGTGCTTG GAAGTTGGTT TATTTGACAC GCCTCCTTTT
N
ATTCCAACTC TACAAACAGT TTCCGAAACA CAGTGGAAGG CAAGTAAATG AAATCAGTAT
TTTTAAAAGA TCTAGTTATC AGAGAAAACT GAATTATTCA AAAGCAAGTT TCTTTGAGAA
GGCTTTGAAT AGTATATTAA TCCTGTGTGT TTATGTGAAT GAGATTTTCT ATTATGATAC
ACCTGCTTGA AAAAGGAACT TTCTTAAAAA GAAGAGTCAA CCATGAAGCT CTTTTCATTA
TAGGTGAAGC CCTTGGAAAT CATGCTCTAA TTTCTTAAAC ACCCAAAAAC TTTTTAAATT
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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