Product Details

SNP ID

rs200147155

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48893796 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATCCTTAGGGGGCAGCTGGCTG[A/G]GGTCCTCCAGGAATGGGGGCGCTGG

Phenotype

MIM: 300463 MIM: 314375 MIM: 300249

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PQBP1 PubMed Links

Gene Details

Gene

PQBP1

Gene Name

polyglutamine binding protein 1

There are no transcripts associated with this gene.

Gene

SLC35A2

Gene Name

solute carrier family 35 member A2

There are no transcripts associated with this gene.

Gene

TIMM17B

Gene Name

translocase of inner mitochondrial membrane 17 homolog B (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167947.2	601	Missense Mutation	CCC,CTC	P201L	NP_001161419.1
NM_005834.4	601	Missense Mutation	CCC,CTC	P151L	NP_005825.1

View Full Product Details