Product Details

SNP ID

rs2285418

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35642626 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTATCGCCTGCAGAAGGAGCCAAA[G/T]TAGGCTTCTGTTTCCCTGATCTGGC

Phenotype

MIM: 124089 MIM: 609358 MIM: 613232

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COX6B1 PubMed Links

Gene Details

Gene

COX6B1

Gene Name

cytochrome c oxidase subunit 6B1

There are no transcripts associated with this gene.

Gene

ETV2

Gene Name

ETS variant 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300974.1	994	UTR 5			NP_001287903.1
NM_001304549.1	994	Missense Mutation	GTA,TTA	V28L	NP_001291478.1
NM_014209.3	994	Missense Mutation	GTA,TTA	V28L	NP_055024.2
XM_005258652.2	994	Missense Mutation	GTA,TTA	V56L	XP_005258709.1
XM_011526624.2	994	UTR 5			XP_011524926.1
XM_017026472.1	994	Missense Mutation	GTA,TTA	V56L	XP_016881961.1

Gene

RBM42

Gene Name

RNA binding motif protein 42

There are no transcripts associated with this gene.

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