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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