Product Details

SNP ID

rs111785933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:51820583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACGTAAGTGTTAATTCTCTGTTTA[A/G]CTCTCTTTCTTTTCCTTTTGGGTGG

Phenotype

MIM: 615904

Polymorphism

A/G, Transition 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	689	Missense Mutation	GCT,GTT	A205V	NP_001273711.1
NM_001286783.1	689	Missense Mutation	GCT,GTT	A105V	NP_001273712.1
NM_052937.3	689	Missense Mutation	GCT,GTT	A281V	NP_443169.2
XM_005251146.2	689	Intron			XP_005251203.1
XM_011517444.2	689	Missense Mutation	GCT,GTT	A105V	XP_011515746.1
XM_017013017.1	689	Missense Mutation	GCT,GTT	A105V	XP_016868506.1

Gene

PXDNL

Gene Name

peroxidasin like

There are no transcripts associated with this gene.

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