Product Details

SNP ID

rs200429195

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153504790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCTCGGGCGTCCTGGACCCGGA[A/C]TCTGTCACACCCACCTACAGCGCCA

Phenotype

MIM: 301870 MIM: 300540

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BGN PubMed Links

Gene Details

Gene

BGN

Gene Name

biglycan

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001711.5	174	Missense Mutation	GAA,GAC	E53D	NP_001702.1
XM_017029724.1	174	Missense Mutation	GAA,GAC	E53D	XP_016885213.1

Gene

HAUS7

Gene Name

HAUS augmin like complex subunit 7

There are no transcripts associated with this gene.

View Full Product Details