Product Details

SNP ID

rs146658172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7895704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTGGCCGAGTACCTCACCGTGG[A/C]CATGCTCATGATTGGGGTCTTTGGC

Phenotype

MIM: 612891 MIM: 603014

Polymorphism

A/C, Transversion 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	345	Missense Mutation	GAC,GCC	D34A	NP_001255213.1
NM_001268285.2	345	Intron			NP_001255214.1
NM_025061.5	345	Missense Mutation	GAC,GCC	D34A	NP_079337.2
XM_011528319.2	345	Missense Mutation	GAC,GCC	D34A	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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