Product Details

SNP ID

rs182610822

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:94021508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTATGTACCCCAAGGGAAGAATG[C/T]TATTACTGGGAAAAGTTTCACAGAA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HEPHL1 PubMed Links

Gene Details

Gene

HEPHL1

Gene Name

hephaestin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098672.1	297	Missense Mutation	GCT,GTT	A47V	NP_001092142.1

View Full Product Details