Product Details

SNP ID: rs202083153
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:74472241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGATGAGCGCCGCGCATAATCAGGC[A/G]ATGCCCGTCTCCTGGGGAAGAAACA
Phenotype: MIM: 601336 MIM: 611857
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CCDC142 PubMed Links

Gene Details

Gene: CCDC142
Gene Name: coiled-coil domain containing 142

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032779.3	372	Intron			NP_116168.3

Gene: MOGS
Gene Name: mannosyl-oligosaccharide glucosidase

There are no transcripts associated with this gene.

Gene: MRPL53
Gene Name: mitochondrial ribosomal protein L53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053050.4	372	Missense Mutation	CGC,TGC	R73C	NP_444278.1

View Full Product Details