Product Details

SNP ID

rs112118640

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:32484076 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGATAAAGTCAAGTAGGAACATAA[A/G]ACTTGCTATAAATCCAAACACCTGA

Phenotype

MIM: 607889

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CMTM6 PubMed Links

Gene Details

Gene

CMTM6

Gene Name

CKLF like MARVEL transmembrane domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017801.2	602	Missense Mutation	CTT,TTT	L146F	NP_060271.1

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