Product Details

SNP ID

rs199827698

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:45345135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCATCAGATAGCGATTCTTCC[C/T]GGCCCACAAATGGACAAGCCTCTTG

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	2152	Missense Mutation	CAG,CGG	Q391R	NP_001307729.1
NM_007170.2	2152	Missense Mutation	CAG,CGG	Q474R	NP_009101.2
XM_005270355.3	2152	Missense Mutation	CAG,CGG	Q425R	XP_005270412.1
XM_006710287.2	2152	Missense Mutation	CAG,CGG	Q474R	XP_006710350.1
XM_011540497.1	2152	Missense Mutation	CAG,CGG	Q474R	XP_011538799.1
XM_011540500.2	2152	Intron			XP_011538802.1
XM_017000047.1	2152	Missense Mutation	CAG,CGG	Q425R	XP_016855536.1
XM_017000048.1	2152	Missense Mutation	CAG,CGG	Q266R	XP_016855537.1
XM_017000049.1	2152	Missense Mutation	CAG,CGG	Q266R	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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