Product Details

SNP ID
rs190893946
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:45345003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACCCAAAACCATTTTCTTCCTGG[A/G]GAATGGAGCAGTCCATAGCCTCATG
Phenotype
MIM: 604933 MIM: 604746 MIM: 613931
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MUTYH PubMed Links

Gene Details

Gene
MUTYH
Gene Name
mutY DNA glycosylase
There are no transcripts associated with this gene.

Gene
TESK2
Gene Name
testis-specific kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320800.1 2284 Missense Mutation CCC,CTC P435L NP_001307729.1
NM_007170.2 2284 Missense Mutation CCC,CTC P518L NP_009101.2
XM_005270355.3 2284 Missense Mutation CCC,CTC P469L XP_005270412.1
XM_006710287.2 2284 Missense Mutation CCC,CTC P518L XP_006710350.1
XM_011540497.1 2284 Missense Mutation CCC,CTC P518L XP_011538799.1
XM_011540500.2 2284 Intron XP_011538802.1
XM_017000047.1 2284 Missense Mutation CCC,CTC P469L XP_016855536.1
XM_017000048.1 2284 Missense Mutation CCC,CTC P310L XP_016855537.1
XM_017000049.1 2284 Missense Mutation CCC,CTC P310L XP_016855538.1
Gene
TOE1
Gene Name
target of EGR1, member 1 (nuclear)
There are no transcripts associated with this gene.

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