Product Details
- SNP ID
-
rs191613214
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:1153830 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGCGTTGGTGGGGGCGTCCCCGGA[A/G]AGCCCCGGGGCGCCGGGACGCGAGG
- Phenotype
-
MIM: 607904
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CACNA1H
PubMed Links
Gene Details
- Gene
- CACNA1H
- Gene Name
- calcium voltage-gated channel subunit alpha1 H
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001005407.1 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
NP_001005407.1 |
NM_021098.2 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
NP_066921.2 |
XM_005255652.4 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_005255709.1 |
XM_006720963.3 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_006721026.1 |
XM_006720964.3 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_006721027.1 |
XM_006720965.3 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_006721028.1 |
XM_006720967.3 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_006721030.1 |
XM_006720968.3 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_006721031.1 |
XM_011522724.2 |
187 |
Intron |
|
|
XP_011521026.1 |
XM_011522727.2 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_011521029.1 |
XM_017023819.1 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_016879308.1 |
XM_017023820.1 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_016879309.1 |
XM_017023821.1 |
187 |
Silent Mutation |
GAA,GAG |
E31E |
XP_016879310.1 |
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