Product Details

SNP ID

rs927344

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.10:99784690 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

GTTCTGGTGTGGATTCCCTTGGGCT[A/T]CCTATGGCTCCTGGCCCCCTGGCAG

Phenotype

MIM: 601107

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ABCC2 PubMed Links

Gene Details

Gene

ABCC2

Gene Name

ATP binding cassette subfamily C member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000392.4	340	Missense Mutation	TAC,TTC	Y39F	NP_000383.1
XM_006717630.3	340	Intron			XP_006717693.1
XM_006717631.3	340	Missense Mutation	TAC,TTC	Y39F	XP_006717694.1
XM_011539291.2	340	Missense Mutation	TAC,TTC	Y39F	XP_011537593.1
XM_017015675.1	340	Missense Mutation	TAC,TTC	Y39F	XP_016871164.1

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