Product Details
- SNP ID
-
rs144263882
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:42460911 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTGCCACCATGGGGGAGCTTTTCC[A/G]GAGTGAAGAAATGACACTGGCCCAG
- Phenotype
-
MIM: 192130
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP6V0A1
PubMed Links
Gene Details
- Gene
- ATP6V0A1
- Gene Name
- ATPase H+ transporting V0 subunit a1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001130020.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
NP_001123492.1 |
| NM_001130021.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
NP_001123493.1 |
| NM_005177.3 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
NP_005168.2 |
| XM_005257459.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_005257516.1 |
| XM_005257461.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_005257518.1 |
| XM_005257463.2 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_005257520.1 |
| XM_011524908.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_011523210.1 |
| XM_017024766.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880255.1 |
| XM_017024767.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880256.1 |
| XM_017024768.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880257.1 |
| XM_017024769.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880258.1 |
| XM_017024770.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880259.1 |
| XM_017024771.1 |
129 |
Missense Mutation |
CAG,CGG |
Q6R |
XP_016880260.1 |
| XM_017024772.1 |
129 |
Intron |
|
|
XP_016880261.1 |
| XM_017024773.1 |
129 |
Intron |
|
|
XP_016880262.1 |
| XM_017024774.1 |
129 |
UTR 5 |
|
|
XP_016880263.1 |
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