Product Details

SNP ID

rs200377849

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:51820654 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCTGCATCTCATCATTTATGAA[A/C]TTTCTAAGTGTGCGTCGAATGTAAA

Phenotype

MIM: 615904

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

PCMTD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs35006940] 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

PCMTD1

Gene Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286782.1	618	Missense Mutation	AAG,AAT	K181N	NP_001273711.1
NM_001286783.1	618	Missense Mutation	AAG,AAT	K81N	NP_001273712.1
NM_052937.3	618	Missense Mutation	AAG,AAT	K257N	NP_443169.2
XM_005251146.2	618	Intron			XP_005251203.1
XM_011517444.2	618	Missense Mutation	AAG,AAT	K81N	XP_011515746.1
XM_017013017.1	618	Missense Mutation	AAG,AAT	K81N	XP_016868506.1

Gene

PXDNL

Gene Name

peroxidasin like

There are no transcripts associated with this gene.

View Full Product Details