Product Details

SNP ID

rs141505256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2537272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAATCCTGTCTCTTACAGCAC[A/G]AGGCGGAGTGAAAGGGCGGGTGAAG

Phenotype

MIM: 606707

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TMC2 PubMed Links

Gene Details

Gene

TMC2

Gene Name

transmembrane channel like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080751.2	53	Missense Mutation	CAA,CGA	Q13R	NP_542789.2
XM_005260660.3	53	Intron			XP_005260717.1

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