Product Details
- SNP ID
-
rs147608316
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:48198278 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGATCTACCCAGCTGTGGTGTTATC[C/T]CCTTTGTTCAAAGCCTTCTTTGTAA
- Phenotype
-
MIM: 607807
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ABCA13
PubMed Links
Gene Details
- Gene
- ABCA13
- Gene Name
- ATP binding cassette subfamily A member 13
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_152701.4 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
NP_689914.3 |
XM_011515130.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513432.1 |
XM_011515131.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513433.1 |
XM_011515132.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513434.1 |
XM_011515133.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513435.1 |
XM_011515134.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513436.1 |
XM_011515136.2 |
265 |
Intron |
|
|
XP_011513438.2 |
XM_011515137.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513439.1 |
XM_011515138.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513440.1 |
XM_011515139.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513441.1 |
XM_011515141.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513443.1 |
XM_011515142.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513444.1 |
XM_011515143.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513445.1 |
XM_011515144.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513446.1 |
XM_011515145.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513447.1 |
XM_011515146.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513448.1 |
XM_011515147.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513449.1 |
XM_011515148.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513450.1 |
XM_011515149.2 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_011513451.1 |
XM_017011767.1 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_016867256.1 |
XM_017011768.1 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_016867257.1 |
XM_017011769.1 |
265 |
Missense Mutation |
CCC,TCC |
P69S |
XP_016867258.1 |
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