| 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: | C/G | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.1454G>C | | NM_000550.2:c.1454G>C | | NP_000541.1:p.Gly485Ala | | NT_008413.17:g.12699022G>C |
| |
SNP Details are organized in the following sections:
The submission ss61706470 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41303653 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 |
|---|
| ss61706470 | SI_EXO|NT_008413.16_12699022 |  | fwd/ | C/G | tacctgagataattgccatagcagtagttg | cgctttgttactggttgcactcatttttgg | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs41303653|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=127 TTTCCCCAAC AAAGGCAGTA GGGCATAGTG GAAAAGTACA AGACTTATAT TCTAAAATAT
CCGGGCTCCA AAGCCAACTT TATTGCTTAC CAACCAAGTG ACCTGGGTAA GTGACTCAGA
CTCATTGAGT CATCATTCTC TCACTTTCAC AAAATGAAAT GGAAATAACA ATGACTATCC
CAATAGGGTC CACTCATTAA AAGAAATCAG GAAGTGGCTT CAAGGCCATG TGGCCAATGT
AAATTAAATA TGAGGATTTC TGTTAAAATA GACATTTCTA AATTTCATCT GTCCACTTTT
TGGTGATAAC TATTTTAATA TTTGTCTTTT TATTTTTATC TTCCTTTCCA AATAGGTCGG
GAGTTTAGTG TACCTGAGAT AATTGCCATA GCAGTAGTTG
S
CGCTTTGTTA CTGGTTGCAC TCATTTTTGG GACTGCTTCT TATCTGATTC GTGCCAGACG
CAGTATGGAT GAAGCTAACC AGCCTCTCCT CACTGATCAG TATCAATGCT ATGCTGAAGA
ATATGAAAAA CTCCAGAATC CTAATCAGTC TGTGGTCTAA CAAATGCCCT ACTCTCTTAT
GCATTAGTAT CACAAAACCA CCTGGTTGAA TATAATAGAT TGAGTTATTA ACTGTATTTT
CTTTCACTTT ATTACCTTCT TTCTAATACA AGCATATGTT AGCATTAAAG TTCTAGGCAT
ACTTTTCAAA GCTGGGAAGA CCCTTTCAGA ATCTTTTCAA TGGGTTTTAA TTTTCAGTTC
TATTTAAAAT GGTGAATGAC ACTAAACTCC ATGATATTTA
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 |
| 
