Product Details

SNP ID

rs143114409

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31531349 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCAATGGCTGGGAAGTTCTGCTC[C/T]ACTAGTAGCTGGGCCAAGGCAATGC

Phenotype

MIM: 142560 MIM: 609624

Polymorphism

C/T, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004640.6	1452	Silent Mutation	GTA,GTG	V308V	NP_004631.1
NM_080598.5	1452	Silent Mutation	GTA,GTG	V308V	NP_542165.1

Gene

MCCD1

Gene Name

mitochondrial coiled-coil domain 1

There are no transcripts associated with this gene.

Gene

SNORD117

Gene Name

small nucleolar RNA, C/D box 117

There are no transcripts associated with this gene.

Gene

SNORD84

Gene Name

small nucleolar RNA, C/D box 84

There are no transcripts associated with this gene.

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