Product Details

SNP ID

rs142388414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:47716655 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGGCGGGGCACGGGGCCAGCAG[C/T]CCGAGGCCATCCGCACGGTGACCTC

Phenotype

MIM: 605890

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EHD2 PubMed Links

Gene Details

Gene

EHD2

Gene Name

EH domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014601.3	293	Missense Mutation	CCC,TCC	P15S	NP_055416.2

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