Product Details
- SNP ID
-
rs61755873
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:78132450 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAGCCTGCTGCTCACCGCAAGCTT[C/G]GTGCTGCTGCCCCTGGTCTGGCTCC
- Phenotype
-
MIM: 605828
MIM: 605829
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
TMC6
PubMed Links
Gene Details
- Gene
- TMC6
- Gene Name
- transmembrane channel like 6
- Gene
- TMC8
- Gene Name
- transmembrane channel like 8
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_152468.4 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
NP_689681.2 |
XM_011524402.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522704.1 |
XM_011524403.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522705.1 |
XM_011524404.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522706.1 |
XM_011524406.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522708.1 |
XM_011524409.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522711.1 |
XM_011524410.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522712.1 |
XM_011524411.2 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_011522713.1 |
XM_017024238.1 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_016879727.1 |
XM_017024239.1 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_016879728.1 |
XM_017024240.1 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_016879729.1 |
XM_017024241.1 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_016879730.1 |
XM_017024242.1 |
2254 |
Intron |
|
|
XP_016879731.1 |
XM_017024243.1 |
2254 |
Intron |
|
|
XP_016879732.1 |
XM_017024244.1 |
2254 |
Missense Mutation |
TTC,TTG |
F130L |
XP_016879733.1 |
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