| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 126/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/C | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_007240.1:c.152C>A | | NP_009171.1:p.Ala51Glu | | NT_004487.18:g.12210098C>A |
| |
SNP Details are organized in the following sections:
The submission ss48406826 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35106830 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 |
|---|
| ss48406826 | APPLERA_GI|hCV22273003 |   | fwd/T | A/C | ccgtcgcggagccagatcacctgagggaag | gggcatcacggccgtgctaacagtggactc | 09/28/05 | 11/03/06 | 126 | Genomic | | | unknown |
>gnl|dbSNP|rs35106830|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=126 CTCAGCGATA AGTCCAGATT CCTGCGGCCG ACGTGGTCCT CCGAGGGAGC AGCAGAGCCG
CCGAGGCTGG CGAGTCCCAG GGGAAGGATG TTCTAGCCGG AGTCTACTCG ATGGTAGGGC
AGGAAGCCGC CTTGTCTCTG GGCGCGGCCA TGTTGGAGGC TCCGGGCCCG AGTGATGGCT
GCGAGCTCAG CAACCCCAGC GCCAGCAGAG TCAGCTGTGC CGGGCAGATG CTGGAAGTGC
AGCCAGGATT GTATTTCGGT GGGGCCGCGG CCGTCGCGGA GCCAGATCAC CTGAGGGAAG
M
GGGCATCACG GCCGTGCTAA CAGTGGACTC GGAGGAGCCC AGCTTCAAGG CGGGGCCTGG
GGTCGAGGAT CTATGGCGCC TCTTCGTGCC AGCGCTGGAC AAACCCGAGA CGGACCTACT
CAGCCATCTG GACCGGTGCG TGGCCTTCAT CGGTCAGGCC CGCGCTGAGG GCCGTGCGGT
GTTGGTGCAC TGGTGAGTGG CCGGGTCAGT GGGTGACGTG CCCCGCCAAG CTTCCAGCCG
GCCCCCGTCG CCCCTTACCT TCCGAGGCCG TCGGGAGGAC AAGAGCGCGG TCATGCCGCG
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.
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.121+/-0.214 | 39 | 39 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data | | UNKNOWN | UNKNOWN | UNKNOWN |
| 
