Product Details

SNP ID
rs76648903
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63434581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGGACACCCTCGGGCTCAAATG[A/C]GCTATACTTGCCCCTGCAGGGGTGA
Phenotype
MIM: 600019 MIM: 615047
Polymorphism
A/C, Transversion 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_001017916.1 749 Missense Mutation GCA,TCA A193S NP_001017916.1
NM_001017917.1 749 Missense Mutation GCA,TCA A193S NP_001017917.1
NM_001915.3 749 Missense Mutation GCA,TCA A193S NP_001906.3
XM_005257091.1 749 Missense Mutation GCA,TCA A193S XP_005257148.1
XM_017024260.1 749 Missense Mutation GCA,TCA A200S XP_016879749.1
XM_017024261.1 749 Silent Mutation GCG,GCT A201A XP_016879750.1
XM_017024262.1 749 Missense Mutation GCA,TCA A260S 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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