Product Details

SNP ID
rs138468954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63434582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGACACCCTCGGGCTCAAATGC[A/G]CTATACTTGCCCCTGCAGGGGTGAG
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_001017916.1 748 Silent Mutation AGC,AGT S192S NP_001017916.1
NM_001017917.1 748 Silent Mutation AGC,AGT S192S NP_001017917.1
NM_001915.3 748 Silent Mutation AGC,AGT S192S NP_001906.3
XM_005257091.1 748 Silent Mutation AGC,AGT S192S XP_005257148.1
XM_017024260.1 748 Silent Mutation AGC,AGT S199S XP_016879749.1
XM_017024261.1 748 Missense Mutation GCG,GTG A201V XP_016879750.1
XM_017024262.1 748 Silent Mutation AGC,AGT S259S 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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