Product Details

SNP ID

rs17567

Assay Type

Validated

NCBI dbSNP Submissions

89

Location

Chr.1:51361249 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TAGCAGAAGTGAATGGATCACAAAA[C/T]ATTTCAGGATCTTTTTCTTTGGGGC

Phenotype

MIM: 600051

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPS15 PubMed Links

Gene Details

Gene

EPS15

Gene Name

epidermal growth factor receptor pathway substrate 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159969.1	2499	Missense Mutation	ATA,ATG	I508M	NP_001153441.1
NM_001981.2	2499	Missense Mutation	ATA,ATG	I822M	NP_001972.1
XM_005270618.2	2499	Missense Mutation	ATA,ATG	I792M	XP_005270675.1
XM_017000615.1	2499	Missense Mutation	ATA,ATG	I859M	XP_016856104.1
XM_017000616.1	2499	Missense Mutation	ATA,ATG	I791M	XP_016856105.1
XM_017000617.1	2499	Missense Mutation	ATA,ATG	I754M	XP_016856106.1
XM_017000618.1	2499	Missense Mutation	ATA,ATG	I724M	XP_016856107.1
XM_017000619.1	2499	Missense Mutation	ATA,ATG	I634M	XP_016856108.1
XM_017000620.1	2499	Missense Mutation	ATA,ATG	I584M	XP_016856109.1

View Full Product Details