Product Details

SNP ID

rs11550617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:26434028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGGAGTACGCCAAGCGCTACT[A/C]CTGGTCCGGCATGGGCCGCATCCAC

Phenotype

MIM: 606682

Polymorphism

A/C, Transversion 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	810	Missense Mutation	TAC,TCC	Y138S	NP_065170.2

Gene

HPS4

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

There are no transcripts associated with this gene.

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