Product Details
- SNP ID
-
rs148897061
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
6
- Location
-
Chr.1:43971504 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTATGCCCCTAGAGCGTTTTGGGC[A/G]CCGCTTCCCCCTTGCCCCAGGGAGG
- Phenotype
-
MIM: 603717
MIM: 604013
MIM: 603456
MIM: 610411
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP6V0B
PubMed Links
Gene Details
- Gene
- ATP6V0B
- Gene Name
- ATPase H+ transporting V0 subunit b
There are no transcripts associated with this gene.
- Gene
- B4GALT2
- Gene Name
- beta-1,4-galactosyltransferase 2
There are no transcripts associated with this gene.
- Gene
- DPH2
- Gene Name
- DPH2 homolog
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001039589.1 |
745 |
Intron |
|
|
NP_001034678.1 |
| NM_001319165.1 |
745 |
Missense Mutation |
CAC,CGC |
H125R |
NP_001306094.1 |
| NM_001319166.1 |
745 |
Intron |
|
|
NP_001306095.1 |
| NM_001319167.1 |
745 |
Missense Mutation |
CAC,CGC |
H8R |
NP_001306096.1 |
| NM_001319168.1 |
745 |
Missense Mutation |
CAC,CGC |
H125R |
NP_001306097.1 |
| NM_001319169.1 |
745 |
Missense Mutation |
CAC,CGC |
H66R |
NP_001306098.1 |
| NM_001319170.1 |
745 |
Missense Mutation |
CAC,CGC |
H8R |
NP_001306099.1 |
| NM_001319171.1 |
745 |
Missense Mutation |
CAC,CGC |
H53R |
NP_001306100.1 |
| NM_001384.4 |
745 |
Missense Mutation |
CAC,CGC |
H201R |
NP_001375.2 |
| XM_017000502.1 |
745 |
Missense Mutation |
CAC,CGC |
H201R |
XP_016855991.1 |
| XM_017000503.1 |
745 |
Missense Mutation |
CAC,CGC |
H125R |
XP_016855992.1 |
| XM_017000504.1 |
745 |
Missense Mutation |
CAC,CGC |
H74R |
XP_016855993.1 |
| XM_017000505.1 |
745 |
Missense Mutation |
CAC,CGC |
H74R |
XP_016855994.1 |
| XM_017000506.1 |
745 |
Missense Mutation |
CAC,CGC |
H8R |
XP_016855995.1 |
- Gene
- IPO13
- Gene Name
- importin 13
There are no transcripts associated with this gene.
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