Product Details

SNP ID

rs144473968

Assay Type

Functionally Tested

NCBI dbSNP Submissions

8

Location

Chr.1:45345250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCAGTCAGCCAGGGGCATAGTTC[C/T]GGGCCCTGGTGCATCCAGGTCAAAT

Phenotype

MIM: 604933 MIM: 604746 MIM: 613931

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MUTYH PubMed Links

Additional Information

For this assay, SNP(s) [rs3893383] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2037	Missense Mutation	AGA,GGA	R353G	NP_001307729.1
NM_007170.2	2037	Missense Mutation	AGA,GGA	R436G	NP_009101.2
XM_005270355.3	2037	Missense Mutation	AGA,GGA	R387G	XP_005270412.1
XM_006710287.2	2037	Missense Mutation	AGA,GGA	R436G	XP_006710350.1
XM_011540497.1	2037	Missense Mutation	AGA,GGA	R436G	XP_011538799.1
XM_011540500.2	2037	Intron			XP_011538802.1
XM_017000047.1	2037	Missense Mutation	AGA,GGA	R387G	XP_016855536.1
XM_017000048.1	2037	Missense Mutation	AGA,GGA	R228G	XP_016855537.1
XM_017000049.1	2037	Missense Mutation	AGA,GGA	R228G	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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