Product Details

SNP ID
rs149898988
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:51820604 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAACTCTCTTTCTTTTCCTTTTG[C/G]GTGGAGCCCTTTGAGGAATCCCCTT
Phenotype
MIM: 615904
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PCMTD1 PubMed Links

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_001286782.1 668 Missense Mutation CCC,CGC P198R NP_001273711.1
NM_001286783.1 668 Missense Mutation CCC,CGC P98R NP_001273712.1
NM_052937.3 668 Missense Mutation CCC,CGC P274R NP_443169.2
XM_005251146.2 668 Intron XP_005251203.1
XM_011517444.2 668 Missense Mutation CCC,CGC P98R XP_011515746.1
XM_017013017.1 668 Missense Mutation CCC,CGC P98R XP_016868506.1
Gene
PXDNL
Gene Name
peroxidasin like
There are no transcripts associated with this gene.

View Full Product Details