Product Details

SNP ID

rs148251960

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:42965079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCCTCTAACAGAGCATACTTGC[A/G]TGTGATGGCACTTAGAACGCGTAGC

Phenotype

MIM: 606628 MIM: 601498

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CNPY3-GNMT PubMed Links

Additional Information

For this assay, SNP(s) [rs141238034] 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

CNPY3-GNMT

Gene Name

CNPY3-GNMT readthrough

There are no transcripts associated with this gene.

Gene

GNMT

Gene Name

glycine N-methyltransferase

There are no transcripts associated with this gene.

Gene

PEX6

Gene Name

peroxisomal biogenesis factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000287.3	2755	Missense Mutation	CGC,TGC	R888C	NP_000278.3
NM_001316313.1	2755	Missense Mutation	CGC,TGC	R800C	NP_001303242.1
XM_011514661.1	2755	Missense Mutation	CGC,TGC	R860C	XP_011512963.1

View Full Product Details