Product Details

SNP ID: rs11556596
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:64260245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAACCTGGGCAGTGGCACTGGGTAT[A/C]TCAGCTCCATGGTGGGCCTCATTCT
Phenotype
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: PCMTD2 PubMed Links

Gene Details

Gene: PCMTD2
Gene Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001104925.1	480	Missense Mutation	ATC,CTC	I94L	NP_001098395.1
NM_018257.2	480	Missense Mutation	ATC,CTC	I94L	NP_060727.2