Product Details

SNP ID
rs186592461
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:45345102 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTCTGTACTTGAGACTACTTAGG[C/T]GTGGTGGGGGCCCATCAGATAGCGA
Phenotype
MIM: 604933 MIM: 604746 MIM: 613931
Polymorphism
C/T, 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 2185 Missense Mutation CAC,CGC H402R NP_001307729.1
NM_007170.2 2185 Missense Mutation CAC,CGC H485R NP_009101.2
XM_005270355.3 2185 Missense Mutation CAC,CGC H436R XP_005270412.1
XM_006710287.2 2185 Missense Mutation CAC,CGC H485R XP_006710350.1
XM_011540497.1 2185 Missense Mutation CAC,CGC H485R XP_011538799.1
XM_011540500.2 2185 Intron XP_011538802.1
XM_017000047.1 2185 Missense Mutation CAC,CGC H436R XP_016855536.1
XM_017000048.1 2185 Missense Mutation CAC,CGC H277R XP_016855537.1
XM_017000049.1 2185 Missense Mutation CAC,CGC H277R 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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