Product Details

SNP ID

rs200862039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7631705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGGCCCTCAGGGGGCTTGTGTC[A/G]GGGGCTGGGGGCTGCTGTTCCGACG

Phenotype

MIM: 614770 MIM: 601717 MIM: 610850

Polymorphism

A/G, 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	404	Missense Mutation	CCG,CTG	P116L	NP_001258759.1
NM_174895.2	404	Missense Mutation	CCG,CTG	P132L	NP_777555.1
XM_006722639.2	404	Missense Mutation	CCG,CTG	P95L	XP_006722702.1
XM_017026249.1	404	Missense Mutation	CCG,CTG	P248L	XP_016881738.1
XM_017026250.1	404	Missense Mutation	CCG,CTG	P248L	XP_016881739.1
XM_017026251.1	404	Missense Mutation	CCG,CTG	P132L	XP_016881740.1
XM_017026252.1	404	Missense Mutation	CCG,CTG	P95L	XP_016881741.1

Gene

PET100

Gene Name

PET100 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171155.1	404	Intron			NP_001164626.1

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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