Product Details

SNP ID
rs144974437
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7632772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGAACAGCGCTGTCCCTCCATC[C/T]GGTCGCCCTGCACGTGGCTCAGCAG
Phenotype
MIM: 614770 MIM: 601717 MIM: 610850
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PCP2 PubMed Links

Gene Details

Gene
PCP2
Gene Name
Purkinje cell protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271830.1 119 Missense Mutation CAG,CGG Q21R NP_001258759.1
NM_174895.2 119 Missense Mutation CAG,CGG Q37R NP_777555.1
XM_006722639.2 119 UTR 5 XP_006722702.1
XM_017026249.1 119 Missense Mutation CAG,CGG Q153R XP_016881738.1
XM_017026250.1 119 Missense Mutation CAG,CGG Q153R XP_016881739.1
XM_017026251.1 119 Missense Mutation CAG,CGG Q37R XP_016881740.1
XM_017026252.1 119 UTR 5 XP_016881741.1
Gene
PET100
Gene Name
PET100 homolog
There are no transcripts associated with this gene.

Gene
STXBP2
Gene Name
syntaxin binding protein 2
There are no transcripts associated with this gene.

Gene
XAB2
Gene Name
XPA binding protein 2
There are no transcripts associated with this gene.

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