Product Details

SNP ID

rs79389628

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34225613 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTGGACAAGCAAGTGCCTGATA[C/T]CAGCGTGCAAGAGACAGACCGGATC

Phenotype

MIM: 616245 MIM: 604878

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMC4 PubMed Links

Gene Details

Gene

EMC4

Gene Name

ER membrane protein complex subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286420.1	282	Missense Mutation	ACC,ATC	T55I	NP_001273349.1
NM_016454.3	282	Missense Mutation	ACC,ATC	T55I	NP_057538.1

Gene

SLC12A6

Gene Name

solute carrier family 12 member 6

There are no transcripts associated with this gene.

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