Product Details

SNP ID: rs56106612
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:7910338 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACCTGCGGCCAGGTGTGGAAGATG[C/T]GCTTCCGGAAGACCGGCCACGTCAT
Phenotype: MIM: 612891 MIM: 603014 MIM: 605076
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

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	625	Missense Mutation	CGC,TGC	R154C	NP_001284484.1
NM_001297556.1	625	Missense Mutation	CGC,TGC	R138C	NP_001284485.1
NM_145185.3	625	Missense Mutation	CGC,TGC	R138C	NP_660186.1
XM_006722800.2	625	Missense Mutation	CGC,TGC	R154C	XP_006722863.1

Gene: SNAPC2
Gene Name: small nuclear RNA activating complex polypeptide 2

There are no transcripts associated with this gene.

Gene: TGFBR3L
Gene Name: transforming growth factor beta receptor 3 like

There are no transcripts associated with this gene.

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