Product Details

SNP ID

rs2471826

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31535740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGCAGAGGCTCTCAAGGCCTTC[A/T]AAACATGCTTTATGGGACCTTCTCC

Phenotype

MIM: 606853 MIM: 142560 MIM: 609624

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1G2 PubMed Links

Gene Details

Gene

ATP6V1G2

Gene Name

ATPase H+ transporting V1 subunit G2

There are no transcripts associated with this gene.

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		Intron			NP_004631.1
NM_080598.5		Intron			NP_542165.1

Gene

DDX39B-AS1

Gene Name

DDX39B antisense RNA 1

There are no transcripts associated with this gene.

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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