Product Details

SNP ID

rs111275297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35668638 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGTGCCGCACTCTGCCGCCGCC[A/G]GTCCATGGTCCTCACGGTGAGACTC

Phenotype

MIM: 124089 MIM: 611557

Polymorphism

A/G, Transition 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

UPK1A

Gene Name

uroplakin 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281443.1	296	Missense Mutation	CAG,CGG	Q90R	NP_001268372.1
NM_007000.3	296	Missense Mutation	CAG,CGG	Q90R	NP_008931.1
XM_017026225.1	296	Missense Mutation	CAG,CGG	Q91R	XP_016881714.1

Gene

UPK1A-AS1

Gene Name

UPK1A antisense RNA 1

There are no transcripts associated with this gene.

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