Product Details

SNP ID: rs148007344
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:74472457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGCGGACCTTCTCACTGCTCACCG[C/T]CTGCAGGAAGGTCCTACGGTGGAAA
Phenotype: MIM: 601336 MIM: 611857
Polymorphism: C/T, 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	261	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	261	Missense Mutation	ACG,GCG	T36A	NP_444278.1

View Full Product Details