Product Details
- SNP ID
-
rs138958849
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:78113188 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCTGTGAGCAGGGCAGGGGGTGCC[A/G]CAGCCTCCTCGGTTGTCCCAACCCT
- Phenotype
-
MIM: 605828
MIM: 610741
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TMC6
PubMed Links
Gene Details
- Gene
- TMC6
- Gene Name
- transmembrane channel like 6
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001127198.2 |
2433 |
Missense Mutation |
GCG,GTG |
A793V |
NP_001120670.1 |
NM_001321185.1 |
2433 |
Missense Mutation |
GCG,GTG |
A793V |
NP_001308114.1 |
NM_007267.7 |
2433 |
Missense Mutation |
GCG,GTG |
A793V |
NP_009198.4 |
XM_005256995.1 |
2433 |
Missense Mutation |
GCG,GTG |
A793V |
XP_005257052.1 |
XM_011524255.1 |
2433 |
Missense Mutation |
GCG,GTG |
A793V |
XP_011522557.1 |
XM_011524256.1 |
2433 |
Missense Mutation |
GCG,GTG |
A751V |
XP_011522558.1 |
XM_011524257.2 |
2433 |
Missense Mutation |
GCG,GTG |
A523V |
XP_011522559.1 |
XM_011524258.1 |
2433 |
Missense Mutation |
GCG,GTG |
A443V |
XP_011522560.1 |
XM_017024107.1 |
2433 |
Missense Mutation |
GCG,GTG |
A733V |
XP_016879596.1 |
XM_017024108.1 |
2433 |
Missense Mutation |
GCG,GTG |
A733V |
XP_016879597.1 |
XM_017024109.1 |
2433 |
Missense Mutation |
GCG,GTG |
A566V |
XP_016879598.1 |
- Gene
- TNRC6C
- Gene Name
- trinucleotide repeat containing 6C
There are no transcripts associated with this gene.
- Gene
- TNRC6C-AS1
- Gene Name
- TNRC6C antisense RNA 1
There are no transcripts associated with this gene.
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