| 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: | A/G | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.922G>A | | NM_000550.2:c.922G>A | | NP_000541.1:p.Asp308Asn | | NT_008413.17:g.12692279G>A |
| |
SNP Details are organized in the following sections:
The submission ss61708145 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41306053 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 |
|---|
| ss61708145 | SI_EXO|NT_008413.16_12692279 |  | fwd/T | A/G | cacatcccatttttttctgcaggcaccgag | atgggccaattaggagaaatccagctggaa | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs41306053|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=127 TCACATATAT GTGACATAAA GATTTTAGTG TAGAACTAGA TTTATGAGAT TATTTTGGCA
AAATTCAATT TTCCATGGAA TTTTCATTTT AATACATTCT TGTGGAAGAA GCATATATTG
ATTTAACAAA TATCAACACC TGTATCTGTT AGTGTGATTC TTTTTTTTCC TTCAGATACT
TTTATGTATC TCATATCTAC TTGATTCAAA GAAATGGGAC ATGGTAACTT AGATTTTCTC
ATTTTAATGC TACCAAGTAT GCATTTTTAA ATTTTCTTTT CTACCAAGGA AAACCTATAT
TTCATATTCA TGCTATGTAT AAAGTTTTAA AGAGCGACAA TAAGAACTCC AAACATTGTG
TAAATGTTTC CACATCCCAT TTTTTTCTGC AGGCACCGAG
R
ATGGGCCAAT TAGGAGAAAT CCAGCTGGAA ATGTGGCCAG ACCAATGGTG CAACGTCTTC
CTGAACCACA GGATGTCGCT CAGTGCTTGG AAGTTGGTTT ATTTGACACG CCTCCTTTTT
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
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 |
| 
