Product Details
- SNP ID
-
rs140320147
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
18
- Location
-
Chr.1:150258183 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GATTTGGATCCTGGCTGCAGATGGG[G/T]GTAGGTACAACTAAATGTCTGTGTG
- Phenotype
-
MIM: 607629
MIM: 604832
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
APH1A
PubMed Links
Gene Details
- Gene
- APH1A
- Gene Name
- aph-1 homolog A, gamma-secretase subunit
There are no transcripts associated with this gene.
- Gene
- CA14
- Gene Name
- carbonic anhydrase 14
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_012113.2 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
NP_036245.1 |
| XM_005245059.2 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_005245116.1 |
| XM_005245060.2 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_005245117.1 |
| XM_006711259.2 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_006711322.1 |
| XM_006711261.2 |
370 |
Silent Mutation |
GGG,GGT |
G2G |
XP_006711324.1 |
| XM_011509379.2 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_011507681.1 |
| XM_017000893.1 |
370 |
Silent Mutation |
GGG,GGT |
G2G |
XP_016856382.1 |
| XM_017000894.1 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_016856383.1 |
| XM_017000895.1 |
370 |
Missense Mutation |
GGT,TGT |
G19C |
XP_016856384.1 |
| XM_017000896.1 |
370 |
Silent Mutation |
GGG,GGT |
G2G |
XP_016856385.1 |
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