Product Details

SNP ID
rs80244485
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63434433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCCGGGGCTATCTCCCTCCGTC[A/G]GCGTCTTGAAGTCCATGGAGAGGGC
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_001017916.1 897 Missense Mutation CCG,CTG P242L NP_001017916.1
NM_001017917.1 897 Missense Mutation CCG,CTG P242L NP_001017917.1
NM_001915.3 897 Missense Mutation CCG,CTG P242L NP_001906.3
XM_005257091.1 897 Missense Mutation CCG,CTG P242L XP_005257148.1
XM_017024260.1 897 Missense Mutation CCG,CTG P249L XP_016879749.1
XM_017024261.1 897 UTR 3 XP_016879750.1
XM_017024262.1 897 Missense Mutation CCG,CTG P309L 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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