Product Details

SNP ID
rs143057314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63434482 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGCTCTTCCGCCTGGGAAGGCC[A/G]CTTCCAGTCGGCCCGGGTCAAGATG
Phenotype
MIM: 600019 MIM: 615047
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CYB561 PubMed Links

Gene Details

Gene
CYB561
Gene Name
cytochrome b561
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017916.1 848 Missense Mutation CGG,TGG R226W NP_001017916.1
NM_001017917.1 848 Missense Mutation CGG,TGG R226W NP_001017917.1
NM_001915.3 848 Missense Mutation CGG,TGG R226W NP_001906.3
XM_005257091.1 848 Missense Mutation CGG,TGG R226W XP_005257148.1
XM_017024260.1 848 Missense Mutation CGG,TGG R233W XP_016879749.1
XM_017024261.1 848 UTR 3 XP_016879750.1
XM_017024262.1 848 Missense Mutation CGG,TGG R293W XP_016879751.1
Gene
TANC2
Gene Name
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
There are no transcripts associated with this gene.

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