Product Details

SNP ID

rs11667165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7907548 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTTGCTCTCACTCCACCCTCCT[A/G]AGCTGCCATGTGGCCATCACCACCT

Phenotype

MIM: 612891 MIM: 603014

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC8E PubMed Links

Gene Details

Gene

LRRC8E

Gene Name

leucine rich repeat containing 8 family member E

There are no transcripts associated with this gene.

Gene

MAP2K7

Gene Name

mitogen-activated protein kinase kinase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297555.1		Intron			NP_001284484.1
NM_001297556.1		Intron			NP_001284485.1
NM_145185.3		Intron			NP_660186.1
XM_006722800.2		Intron			XP_006722863.1

Gene

TGFBR3L

Gene Name

transforming growth factor beta receptor 3 like

There are no transcripts associated with this gene.

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