Product Details

SNP ID

rs142992475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7898736 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTATCAGAGGCCCCGTGCCAGCAA[C/T]TGCTGCCTCGGGGGATCCCTGAGCA

Phenotype

MIM: 612891 MIM: 603014

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRRC8E PubMed Links

Gene Details

Gene

LRRC8E

Gene Name

leucine rich repeat containing 8 family member E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001268284.2	458	Silent Mutation	CTG,TTG	L72L	NP_001255213.1
NM_001268285.2	458	UTR 5			NP_001255214.1
NM_025061.5	458	Silent Mutation	CTG,TTG	L72L	NP_079337.2
XM_011528319.2	458	Silent Mutation	CTG,TTG	L72L	XP_011526621.1

Gene

MAP2K7

Gene Name

mitogen-activated protein kinase kinase 7

There are no transcripts associated with this gene.

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