Product Details

SNP ID

rs146588183

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:45341113 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACAACATCTGGGGAGGAGCTAGT[A/G]GTCCAGGTTCCCGTAGTGGATGTGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048171.1	936	Intron			NP_001041636.1
NM_001048172.1	936	Intron			NP_001041637.1
NM_001048173.1	936	Intron			NP_001041638.1
NM_001048174.1	936	Intron			NP_001041639.1
NM_001128425.1	936	Intron			NP_001121897.1
NM_001293190.1	936	Intron			NP_001280119.1
NM_001293191.1	936	Intron			NP_001280120.1
NM_001293192.1	936	Intron			NP_001280121.1
NM_001293195.1	936	Intron			NP_001280124.1
NM_001293196.1	936	Intron			NP_001280125.1
NM_012222.2	936	Intron			NP_036354.1
XM_011541497.2	936	Intron			XP_011539799.1
XM_011541498.1	936	Intron			XP_011539800.1
XM_011541499.1	936	Intron			XP_011539801.1
XM_011541500.2	936	Intron			XP_011539802.1
XM_011541501.2	936	Intron			XP_011539803.1
XM_011541502.2	936	Intron			XP_011539804.1
XM_011541503.2	936	Intron			XP_011539805.1
XM_011541504.2	936	Intron			XP_011539806.1
XM_011541505.2	936	Intron			XP_011539807.1
XM_011541506.1	936	Intron			XP_011539808.1
XM_011541507.2	936	Intron			XP_011539809.2
XM_017001331.1	936	Intron			XP_016856820.1
XM_017001332.1	936	Intron			XP_016856821.1
XM_017001333.1	936	Intron			XP_016856822.1
XM_017001334.1	936	Intron			XP_016856823.1
XM_017001335.1	936	Intron			XP_016856824.1
XM_017001336.1	936	Intron			XP_016856825.1
XM_017001337.1	936	Intron			XP_016856826.1
XM_017001338.1	936	Intron			XP_016856827.1
XM_017001339.1	936	Intron			XP_016856828.1

Gene

TESK2

Gene Name

testis-specific kinase 2

There are no transcripts associated with this gene.

Gene

TOE1

Gene Name

target of EGR1, member 1 (nuclear)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025077.3	936	Silent Mutation	GTA,GTG	V31V	NP_079353.3
XM_005270412.3	936	Silent Mutation	GTA,GTG	V37V	XP_005270469.1
XM_005270413.4	936	UTR 5			XP_005270470.1
XM_011540569.2	936	UTR 5			XP_011538871.1

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