Product Details
- SNP ID
-
rs201497246
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:128794431 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGAGGTGGAAGAAGAAGAAGAACAA[A/G]TGCAGAAAGGTGGCAGTGTTGGCTC
- Phenotype
-
MIM: 611902
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC136
PubMed Links
Gene Details
- Gene
- CCDC136
- Gene Name
- coiled-coil domain containing 136
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001201372.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
NP_001188301.1 |
NM_022742.4 |
300 |
Missense Mutation |
ATG,GTG |
M34V |
NP_073579.4 |
XM_005250534.3 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_005250591.1 |
XM_005250538.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_005250595.1 |
XM_011516483.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514785.1 |
XM_011516484.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514786.1 |
XM_011516485.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514787.1 |
XM_011516486.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514788.1 |
XM_011516487.2 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514789.1 |
XM_011516488.2 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514790.1 |
XM_011516489.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514791.1 |
XM_011516490.2 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_011514792.1 |
XM_017012532.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_016868021.1 |
XM_017012533.1 |
300 |
Missense Mutation |
ATG,GTG |
M34V |
XP_016868022.1 |
XM_017012534.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_016868023.1 |
XM_017012535.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_016868024.1 |
XM_017012536.1 |
300 |
Missense Mutation |
ATG,GTG |
M84V |
XP_016868025.1 |
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