Product Details

SNP ID

rs77234880

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7637184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGGCTGAAGGCGGTGGTGGGGG[A/G]AAGTGAGTGCCTCTCCGGGGCCGGG

Phenotype

MIM: 614770 MIM: 601717 MIM: 610850

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PCP2 PubMed Links

Additional Information

For this assay, SNP(s) [rs150025014] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	84	Intron			NP_001258759.1
NM_174895.2	84	Intron			NP_777555.1
XM_006722639.2	84	Intron			XP_006722702.1
XM_017026249.1	84	Intron			XP_016881738.1
XM_017026250.1	84	Intron			XP_016881739.1
XM_017026251.1	84	Intron			XP_016881740.1
XM_017026252.1	84	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127396.2	84	Missense Mutation	GAA,GGA	E12G	NP_001120868.1
NM_001272034.1	84	Missense Mutation	GAA,GGA	E12G	NP_001258963.1
NM_006949.3	84	Missense Mutation	GAA,GGA	E12G	NP_008880.2
XM_011528210.1	84	Missense Mutation	GAA,GGA	E12G	XP_011526512.1
XM_011528212.2	84	Missense Mutation	GAA,GGA	E12G	XP_011526514.1

Gene

XAB2

Gene Name

XPA binding protein 2

There are no transcripts associated with this gene.

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