Product Details
- SNP ID
-
rs144907614
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:64939715 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCGCTCCTTAGGTGGAGGTGAGTT[A/G]TGCTGCAGGGGTGGGACAATTCGCC
- Phenotype
-
MIM: 609651
MIM: 601644
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GPHA2
PubMed Links
Gene Details
- Gene
- GPHA2
- Gene Name
- glycoprotein hormone alpha 2
There are no transcripts associated with this gene.
- Gene
- MAJIN
- Gene Name
- membrane anchored junction protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001037225.2 |
708 |
Missense Mutation |
ACA,ATA |
T200I |
NP_001032302.1 |
| NM_001300803.1 |
708 |
Silent Mutation |
CAC,CAT |
H143H |
NP_001287732.1 |
| NM_001318808.1 |
708 |
Silent Mutation |
CAC,CAT |
H115H |
NP_001305737.1 |
| XM_005273918.2 |
708 |
Silent Mutation |
CAC,CAT |
H221H |
XP_005273975.1 |
| XM_006718502.2 |
708 |
Silent Mutation |
CAC,CAT |
H260H |
XP_006718565.1 |
| XM_006718503.3 |
708 |
Silent Mutation |
CAC,CAT |
H260H |
XP_006718566.1 |
| XM_006718504.2 |
708 |
Missense Mutation |
ACA,ATA |
T239I |
XP_006718567.1 |
| XM_006718505.2 |
708 |
Silent Mutation |
CAC,CAT |
H182H |
XP_006718568.1 |
| XM_011544940.2 |
708 |
Silent Mutation |
CAC,CAT |
H260H |
XP_011543242.1 |
| XM_011544941.2 |
708 |
Silent Mutation |
CAC,CAT |
H100H |
XP_011543243.1 |
- Gene
- PPP2R5B
- Gene Name
- protein phosphatase 2 regulatory subunit B'beta
There are no transcripts associated with this gene.
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