Product Details

SNP ID

rs2516480

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31529014 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACAGCTCCCTGCCAGGTCACCCGC[C/G]ATGGTCCTCCCTCTGCCCTGGCTCT

Phenotype

MIM: 142560 MIM: 609624

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1G2-DDX39B PubMed Links

Gene Details

Gene

ATP6V1G2-DDX39B

Gene Name

ATP6V1G2-DDX39B readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

DDX39B

Gene Name

DEAD-box helicase 39B

There are no transcripts associated with this gene.

Gene

MCCD1

Gene Name

mitochondrial coiled-coil domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011700.2	53	UTR 5			NP_001011700.2

Gene

SNORD117

Gene Name

small nucleolar RNA, C/D box 117

There are no transcripts associated with this gene.

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