Product Details

SNP ID

rs199778115

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48903081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCTCCCGAACCAAGCAGCAGGA[C/T]TGAAGCTTCGGCCTCCCTGGCCCTG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032381.1	874	Silent Mutation	GAC,GAT	D265D	NP_001027553.1
NM_001032382.1	874	Silent Mutation	GAC,GAT	D265D	NP_001027554.1
NM_001032383.1	874	Silent Mutation	GAC,GAT	D265D	NP_001027555.1
NM_001032384.1	874	Silent Mutation	GAC,GAT	D265D	NP_001027556.1
NM_001167989.1	874	Silent Mutation	GAC,GAT	D264D	NP_001161461.1
NM_001167990.1	874	Silent Mutation	GAC,GAT	D257D	NP_001161462.1
NM_001167992.1	874	Silent Mutation	GAC,GAT	D165D	NP_001161464.1
NM_005710.2	874	Silent Mutation	GAC,GAT	D265D	NP_005701.1
NM_144495.2	874	Silent Mutation	GAC,GAT	D170D	NP_652766.1
XM_005272571.3	874	Silent Mutation	GAC,GAT	D264D	XP_005272628.1
XM_005272572.4	874	Silent Mutation	GAC,GAT	D170D	XP_005272629.1
XM_011543884.2	874	Silent Mutation	GAC,GAT	D265D	XP_011542186.1
XM_017029207.1	874	Silent Mutation	GAC,GAT	D264D	XP_016884696.1

Gene

SLC35A2

Gene Name

solute carrier family 35 member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032289.2	874	Intron			NP_001027460.1
NM_001042498.2	874	Intron			NP_001035963.1
NM_001282647.1	874	Intron			NP_001269576.1
NM_001282648.1	874	Intron			NP_001269577.1
NM_001282649.1	874	Intron			NP_001269578.1
NM_001282650.1	874	Intron			NP_001269579.1
NM_001282651.1	874	Intron			NP_001269580.1
NM_005660.2	874	Intron			NP_005651.1

Gene

TIMM17B

Gene Name

translocase of inner mitochondrial membrane 17 homolog B (yeast)

There are no transcripts associated with this gene.

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