Product Details

SNP ID

rs139961353

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:43981260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGGCCGTCATCCTCTACTTTGAC[A/G]TCTACGCCCAGCACCTGGCCTTCTT

Phenotype

MIM: 603717 MIM: 604013 MIM: 603456

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V0B PubMed Links

Gene Details

Gene

ATP6V0B

Gene Name

ATPase H+ transporting V0 subunit b

There are no transcripts associated with this gene.

Gene

B4GALT2

Gene Name

beta-1,4-galactosyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005417.2	263	Missense Mutation	ATC,GTC	I34V	NP_001005417.1
NM_003780.4	263	Missense Mutation	ATC,GTC	I34V	NP_003771.1
NM_030587.2	263	Missense Mutation	ATC,GTC	I63V	NP_085076.2
XM_017002716.1	263	Missense Mutation	ATC,GTC	I34V	XP_016858205.1
XM_017002717.1	263	Missense Mutation	ATC,GTC	I34V	XP_016858206.1

Gene

CCDC24

Gene Name

coiled-coil domain containing 24

There are no transcripts associated with this gene.

Gene

DPH2

Gene Name

DPH2 homolog

There are no transcripts associated with this gene.

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