Product Details

SNP ID

rs184993923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:408325 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCACCGTTTTCCCCAGACCCCC[A/G]AAGCCGCTCCAAGAACCACATGTTG

Phenotype

MIM: 610336 MIM: 605217

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C2CD4C PubMed Links

Gene Details

Gene

C2CD4C

Gene Name

C2 calcium dependent domain containing 4C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136263.1	200	Missense Mutation	CGG,TGG	R13W	NP_001129735.1
XM_011527694.1	200	Missense Mutation	CGG,TGG	R13W	XP_011525996.1

Gene

SHC2

Gene Name

SHC adaptor protein 2

There are no transcripts associated with this gene.

View Full Product Details