Product Details

SNP ID
rs188444775
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55355316 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTGAGGTTAAGCCCCCGCATCC[A/G]GCCACTCGGAGTGCTGGGAGTGCTG
Phenotype
MIM: 147681 MIM: 613198
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COX6B2 PubMed Links

Gene Details

Gene
COX6B2
Gene Name
cytochrome c oxidase subunit 6B2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144613.4 2939 Intron NP_653214.2
Gene
FAM71E2
Gene Name
family with sequence similarity 71 member E2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145402.1 2939 Missense Mutation CCG,CTG P918L NP_001138874.1
Gene
IL11
Gene Name
interleukin 11
There are no transcripts associated with this gene.

Gene
KMT5C
Gene Name
lysine methyltransferase 5C
There are no transcripts associated with this gene.

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