| 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.1589A>G | | NM_000550.2:c.1589A>G | | NP_000541.1:p.Gln530Arg | | NT_008413.17:g.12699157A>G |
| |
SNP Details are organized in the following sections:
The submission ss61711448 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41305645 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 |
|---|
| ss61711448 | SI_EXO|NT_008413.16_12699157 |  | fwd/T | A/G | aatgctatgctgaagaatatgaaaaactcc | gaatcctaatcagtctgtggtctaacaaat | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs41305645|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=127 TTCTCTCACT TTCACAAAAT GAAATGGAAA TAACAATGAC TATCCCAATA GGGTCCACTC
ATTAAAAGAA ATCAGGAAGT GGCTTCAAGG CCATGTGGCC AATGTAAATT AAATATGAGG
ATTTCTGTTA AAATAGACAT TTCTAAATTT CATCTGTCCA CTTTTTGGTG ATAACTATTT
TAATATTTGT CTTTTTATTT TTATCTTCCT TTCCAAATAG GTCGGGAGTT TAGTGTACCT
GAGATAATTG CCATAGCAGT AGTTGGCGCT TTGTTACTGG TTGCACTCAT TTTTGGGACT
GCTTCTTATC TGATTCGTGC CAGACGCAGT ATGGATGAAG CTAACCAGCC TCTCCTCACT
GATCAGTATC AATGCTATGC TGAAGAATAT GAAAAACTCC
R
GAATCCTAAT CAGTCTGTGG TCTAACAAAT GCCCTACTCT CTTATGCATT AGTATCACAA
AACCACCTGG TTGAATATAA TAGATTGAGT TATTAACTGT ATTTTCTTTC ACTTTATTAC
CTTCTTTCTA ATACAAGCAT ATGTTAGCAT TAAAGTTCTA GGCATACTTT TCAAAGCTGG
GAAGACCCTT TCAGAATCTT TTCAATGGGT TTTAATTTTC AGTTCTATTT AAAATGGTGA
ATGACACTAA ACTCCATGAT ATTTAAGGAT AGTGTGAAGA TCTTTGGCAT GATTTAAAGG
TTGAGTATGT GAAGATATAA GTAAGTGAAC TACCATGCTT TGTTTACGTG TAAAGGAAAA
TAATGTTTGA TAGTAAATGT CCACTTAAAA TACATGAATG
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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