| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 113/130 | | Map to Genome Build: | 36.3 | | Citation: | PubMed |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/G | | Ancestral Allele: | Not available | | Clinical Association: |   |
| | HGVS Names | | NM_001138.1:c.199G>A | | NM_007316.1:c.199G>A | | NP_001129.1:p.Ala67Thr | | NP_015531.1:p.Ala67Thr | | NT_010498.15:g.21131144C>T |
| |
SNP Details are organized in the following sections:
The submission ss76887311 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5030980 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 |
|---|
| ss7986172 | HGBASE|SNP001744819 |  | fwd/T | A/G | ggcagaagaggatctgttgcaggag | ctcaggccttggcagaggtaactgc | 03/19/03 | 10/10/03 | 113 | Genomic | | | unknown | | ss38342246 | OMIMSNP|OMIM_602311_0001 | | fwd/T | A/G | gaacaggcagaagaggatctgttgcaggag | ctcaggccttggcagaggtactagacctgc | 05/17/05 | 05/17/05 | 126 | cDNA | | | unknown | | ss75015659 | ILLUMINA|ILMN_Human_1M_rs5030980 | | fwd/T | A/G | gaacaggcagaagaggatctgttgcaggag | ctcaggccttggcagaggtactagacctgc | 08/28/07 | 08/29/07 | 129 | Genomic | | | unknown | | ss76887311 | SI_EXO|NT_010498.15_21131144 | | rev/B | C/T | cctgagcagttacctctgccaaggcctgag | ctcctgcaacagatcctcttctgcctgttc | 09/20/07 | 09/20/07 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs5030980|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129 GATAAGGAGG GACTAAGTGG TACATCTTCC TGCTGAGCCA GGCCATGCTG ACCGCAGCGG
TGCTGAGCTG TGCCCTGCTG CTGGCACTGC CTGCCACGCG AGGAGCCCAG ATGGGCTTGG
CCCCCATGGA GGGCATCAGA AGGCCTGACC AGGCCCTGCT CCCAGAGCTC CCAGGTCAGT
GTGAGCAAGG GTGGGACTGG GCGGGGCCTG AATACCCTCT GGCCACAAAT AGTCTCCCCT
GGCATAAACC CTCTTTCTCC CTTCCCAAAC CCTCCCCTGG GAGGTGGGTG CTTTGTGCAT
GGGGGTTCCT GCCCTCACAT CCTCTGCCCC AGGCCTGGGC CTGCGGGCCC CACTGAAGAA
GACAACTGCA GAACAGGCAG AAGAGGATCT GTTGCAGGAG
R
CTCAGGCCTT GGCAGAGGTA ACTGCTCAGG GAAAAGGGTA AGGTGGTGGC CCTTGGGAGG
GGGCATTGGG TATTAGCTCC TCTCCCCAGC TCCAAACTCC CTCACCAGCG ACGACACTAC
CGACCACCCC TTCCCATGCT CCACTGCCAT CCTGCACAGG TTGGGACAGG TAAGATCCCT
GGATCTGTCT TTAGAGGCCT GTGCTGGTTC CCCACCCCTG CAGGTACTAG ACCTGCAGGA
CCGCGAGCCC CGCTCCTCAC GTCGCTGCGT AAGGCTGCAT GAGTCCTGCC TGGGACAGCA
GGTGCCTTGC TGTGACCCAT GTGCCACGTG CTACTGCCGC TTCTTCAATG CCTTCTGCTA
CTGCCGCAAG CTGGGTACTG CCATGAATCC CTGCAGCCGC
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 |
| 
