Product Details

SNP ID

hCV25599998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7640879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGGGGGCTGCTCTGGCCTGATGC[A/C]CCACTCCTGCCTCACCCCAGCCTGC

Phenotype

MIM: 614770 MIM: 601717

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PCP2 PubMed Links

Gene Details

Gene

PCP2

Gene Name

Purkinje cell protein 2

There are no transcripts associated with this gene.

Gene

PET100

Gene Name

PET100 homolog

There are no transcripts associated with this gene.

Gene

STXBP2

Gene Name

syntaxin binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127396.2		Intron			NP_001120868.1
NM_001272034.1		Intron			NP_001258963.1
NM_006949.3		Intron			NP_008880.2

View Full Product Details