Product Details

SNP ID

rs875622

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:16356948 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTTATTAATGTCTCTCTGCGATGC[A/G]CTGCCTCTGACCAGCTCTCTGCTCA

Phenotype

MIM: 616826

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

EPS15L1 PubMed Links

Additional Information

For this assay, SNP(s) [rs79112293] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EPS15L1

Gene Name

epidermal growth factor receptor pathway substrate 15 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258374.1	2636	Intron			NP_001245303.1
NM_001258375.1	2636	Intron			NP_001245304.1
NM_001258376.1	2636	Intron			NP_001245305.1
NM_021235.2	2636	Intron			NP_067058.1
XM_017027086.1	2636	Intron			XP_016882575.1
XM_017027087.1	2636	Silent Mutation	AGC,AGT	S904S	XP_016882576.1
XM_017027088.1	2636	Missense Mutation	CGC,TGC	R869C	XP_016882577.1
XM_017027089.1	2636	Intron			XP_016882578.1
XM_017027090.1	2636	Intron			XP_016882579.1
XM_017027091.1	2636	Intron			XP_016882580.1
XM_017027092.1	2636	Intron			XP_016882581.1

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