Product Details

SNP ID

rs141256918

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:26433753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGGATGGCCTGAGGGACTGCAT[C/T]GCCACCGGCATCCAGTCCGTGCGGG

Phenotype

MIM: 606682

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASPHD2 PubMed Links

Gene Details

Gene

ASPHD2

Gene Name

aspartate beta-hydroxylase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020437.4	535	Silent Mutation	ATC,ATT	I46I	NP_065170.2

Gene

HPS4

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

There are no transcripts associated with this gene.

View Full Product Details