Product Details

SNP ID

rs139861886

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31529903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGAAGCTGAAGGAACAGATGAGG[A/C]GGCACCAAGAGAGCCTTGGAGGAGG

Phenotype

MIM: 142560 MIM: 609624

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ATP6V1G2-DDX39B PubMed Links

Additional Information

For this assay, SNP(s) [rs3093979] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	381	Intron			NP_004631.1
NM_080598.5	381	Intron			NP_542165.1

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	381	Silent Mutation	AGG,CGG	R110R	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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