Product Details

SNP ID

rs11544434

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34227741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCTCAAACAGATTCCCATGAAT[C/T]TCTTCATCATGTACATGGCAGGCAA

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	368	Missense Mutation	CTC,TTC	L84F	NP_001273349.1
NM_016454.3	368	Missense Mutation	CTC,TTC	L84F	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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