Product Details

SNP ID
rs138134649
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:61351017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTGTCGGTCAGGATCCCCGGCT[A/C]TGGGCGCTTCCAAGATGAAGCCAGA
Phenotype
MIM: 615844
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CYB561A3 PubMed Links

Gene Details

Gene
CYB561A3
Gene Name
cytochrome b561 family member A3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161452.1 1526 Nonsense Mutation GAG,TAG E227* NP_001154924.1
NM_001161454.1 1526 Nonsense Mutation GAG,TAG E244* NP_001154926.1
NM_001300763.1 1526 Nonsense Mutation GAG,TAG E227* NP_001287692.1
NM_153611.4 1526 Nonsense Mutation GAG,TAG E227* NP_705839.3
XM_011544821.1 1526 Nonsense Mutation GAG,TAG E244* XP_011543123.1
XM_011544823.1 1526 Nonsense Mutation GAG,TAG E227* XP_011543125.1
XM_011544824.1 1526 Intron XP_011543126.1
XM_017017345.1 1526 Nonsense Mutation GAG,TAG E244* XP_016872834.1
XM_017017346.1 1526 Nonsense Mutation GAG,TAG E227* XP_016872835.1
XM_017017347.1 1526 Nonsense Mutation GAG,TAG E108* XP_016872836.1
Gene
TKFC
Gene Name
triokinase and FMN cyclase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015533.3 1526 Intron NP_056348.2
XM_011544912.2 1526 Intron XP_011543214.1
XM_017017517.1 1526 Intron XP_016873006.1
XM_017017518.1 1526 Intron XP_016873007.1
XM_017017519.1 1526 Intron XP_016873008.1
XM_017017520.1 1526 Intron XP_016873009.1
XM_017017521.1 1526 Intron XP_016873010.1
XM_017017522.1 1526 Intron XP_016873011.1
XM_017017523.1 1526 Intron XP_016873012.1
XM_017017524.1 1526 Intron XP_016873013.1

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