Product Details

SNP ID
rs180854016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48893757 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTACTGCTGATAGCTGGGGTAG[C/T]CTGGGGCCGGGGTGCCATCCTTAGG
Phenotype
MIM: 300463 MIM: 314375 MIM: 300249
Polymorphism
C/T, 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_001167947.2 640 Missense Mutation GAC,GGC D214G NP_001161419.1
NM_005834.4 640 Missense Mutation GAC,GGC D164G NP_005825.1

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