Product Details

SNP ID
rs144079536
Assay Type
Functionally Tested
NCBI dbSNP Submissions
16
Location
Chr.1:45331485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCAACGCTGTAGTTCCTGCAGCA[G/T]GGCCTTGCGCTGAAGCTGCTCTGAG
Phenotype
MIM: 604933 MIM: 613931
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
HPDL PubMed Links

Gene Details

Gene
HPDL
Gene Name
4-hydroxyphenylpyruvate dioxygenase like
There are no transcripts associated with this gene.

Gene
MUTYH
Gene Name
mutY DNA glycosylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048171.1 1226 Missense Mutation NP_001041636.1
NM_001048172.1 1226 Missense Mutation NP_001041637.1
NM_001048173.1 1226 Missense Mutation NP_001041638.1
NM_001048174.1 1226 Missense Mutation NP_001041639.1
NM_001128425.1 1226 Missense Mutation NP_001121897.1
NM_001293190.1 1226 Missense Mutation NP_001280119.1
NM_001293191.1 1226 Missense Mutation NP_001280120.1
NM_001293192.1 1226 Missense Mutation NP_001280121.1
NM_001293195.1 1226 Missense Mutation NP_001280124.1
NM_001293196.1 1226 Missense Mutation NP_001280125.1
NM_012222.2 1226 Missense Mutation NP_036354.1
XM_011541497.2 1226 Missense Mutation XP_011539799.1
XM_011541498.1 1226 Missense Mutation XP_011539800.1
XM_011541499.1 1226 Missense Mutation XP_011539801.1
XM_011541500.2 1226 Missense Mutation XP_011539802.1
XM_011541501.2 1226 Missense Mutation XP_011539803.1
XM_011541502.2 1226 Missense Mutation XP_011539804.1
XM_011541503.2 1226 Missense Mutation XP_011539805.1
XM_011541504.2 1226 Missense Mutation XP_011539806.1
XM_011541505.2 1226 Missense Mutation XP_011539807.1
XM_011541506.1 1226 Missense Mutation XP_011539808.1
XM_011541507.2 1226 Missense Mutation XP_011539809.2
XM_017001331.1 1226 Missense Mutation XP_016856820.1
XM_017001332.1 1226 Missense Mutation XP_016856821.1
XM_017001333.1 1226 Missense Mutation XP_016856822.1
XM_017001334.1 1226 Missense Mutation XP_016856823.1
XM_017001335.1 1226 Missense Mutation XP_016856824.1
XM_017001336.1 1226 Missense Mutation XP_016856825.1
XM_017001337.1 1226 Missense Mutation XP_016856826.1
XM_017001338.1 1226 Missense Mutation XP_016856827.1
XM_017001339.1 1226 Missense Mutation XP_016856828.1
Gene
TOE1
Gene Name
target of EGR1, member 1 (nuclear)
There are no transcripts associated with this gene.

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