Product Details

SNP ID

rs10204697

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74471976 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCTCTGATCTAGTCTTGTTCCA[A/G]AAACATTGTGGTAGCAGGGTTTTAA

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	637	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	637	UTR 3			NP_444278.1

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