Product Details

SNP ID

rs3093983

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31529148 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAGCAAGCATGGAAGAGCAGACCA[A/G]CTCCAGAGGAAATGGGAAGATGACG

Phenotype

MIM: 142560 MIM: 609624

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ATP6V1G2-DDX39B PubMed Links

Additional Information

For this assay, SNP(s) [rs114009639] are located under a probe 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

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	187	Missense Mutation	AAC,AGC	N45S	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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