Product Details

SNP ID

rs12373105

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.16:48083748 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

TGACTTCTGCTGCTAGTAACATCGC[A/T]AATGCAGAATCTGGCTTCTCTGCAA

Phenotype

MIM: 607041

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ABCC12 PubMed Links

Gene Details

Gene

ABCC12

Gene Name

ATP binding cassette subfamily C member 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033226.2	4393	Missense Mutation	TTA,TTT	L1349F	NP_150229.2

View Full Product Details