Product Details
- SNP ID
-
rs200815028
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:129651793 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCGCGTCTGGCATGCCTCCAGGGC[C/G]TCCTGTGGGCCAGAACAGGGAAGAG
- Phenotype
-
MIM: 616242
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
TMCC1
PubMed Links
Gene Details
- Gene
- TMCC1
- Gene Name
- transmembrane and coiled-coil domain family 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001017395.3 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
NP_001017395.2 |
NM_001128224.2 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
NP_001121696.1 |
XM_006713542.3 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_006713605.1 |
XM_006713543.3 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_006713606.1 |
XM_006713544.1 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_006713607.1 |
XM_006713550.3 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_006713613.1 |
XM_006713552.3 |
1807 |
Missense Mutation |
GAC,GAG |
D377E |
XP_006713615.1 |
XM_006713553.3 |
1807 |
Missense Mutation |
GAC,GAG |
D367E |
XP_006713616.1 |
XM_011512572.2 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_011510874.1 |
XM_011512573.2 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_011510875.1 |
XM_011512576.2 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_011510878.1 |
XM_011512579.2 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_011510881.1 |
XM_011512580.2 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_011510882.1 |
XM_011512581.2 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_011510883.1 |
XM_011512582.1 |
1807 |
Missense Mutation |
GAC,GAG |
D371E |
XP_011510884.1 |
XM_011512583.2 |
1807 |
Missense Mutation |
GAC,GAG |
D360E |
XP_011510885.1 |
XM_011512584.2 |
1807 |
Missense Mutation |
GAC,GAG |
D360E |
XP_011510886.1 |
XM_017005931.1 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_016861420.1 |
XM_017005932.1 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_016861421.1 |
XM_017005933.1 |
1807 |
Missense Mutation |
GAC,GAG |
D550E |
XP_016861422.1 |
XM_017005934.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861423.1 |
XM_017005935.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861424.1 |
XM_017005936.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861425.1 |
XM_017005937.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861426.1 |
XM_017005938.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861427.1 |
XM_017005939.1 |
1807 |
Missense Mutation |
GAC,GAG |
D436E |
XP_016861428.1 |
XM_017005940.1 |
1807 |
Missense Mutation |
GAC,GAG |
D360E |
XP_016861429.1 |
XM_017005941.1 |
1807 |
Missense Mutation |
GAC,GAG |
D360E |
XP_016861430.1 |
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