Product Details

SNP ID

rs201659515

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:45341507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAACGTTACAAGGCCGTGTGTCAT[C/G]CTGCCAGGACCCGTTCTATCCTTTC

Phenotype

MIM: 604933 MIM: 604746 MIM: 613931

Polymorphism

C/G, Transversion 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	1114	Intron			NP_001041636.1
NM_001048172.1	1114	Intron			NP_001041637.1
NM_001048173.1	1114	Intron			NP_001041638.1
NM_001048174.1	1114	Intron			NP_001041639.1
NM_001128425.1	1114	Intron			NP_001121897.1
NM_001293190.1	1114	Intron			NP_001280119.1
NM_001293191.1	1114	Intron			NP_001280120.1
NM_001293192.1	1114	Intron			NP_001280121.1
NM_001293195.1	1114	Intron			NP_001280124.1
NM_001293196.1	1114	Intron			NP_001280125.1
NM_012222.2	1114	Intron			NP_036354.1
XM_011541497.2	1114	Intron			XP_011539799.1
XM_011541498.1	1114	Intron			XP_011539800.1
XM_011541499.1	1114	Intron			XP_011539801.1
XM_011541500.2	1114	Intron			XP_011539802.1
XM_011541501.2	1114	Intron			XP_011539803.1
XM_011541502.2	1114	Intron			XP_011539804.1
XM_011541503.2	1114	Intron			XP_011539805.1
XM_011541504.2	1114	Intron			XP_011539806.1
XM_011541505.2	1114	Intron			XP_011539807.1
XM_011541506.1	1114	Intron			XP_011539808.1
XM_011541507.2	1114	Intron			XP_011539809.2
XM_017001331.1	1114	Intron			XP_016856820.1
XM_017001332.1	1114	Intron			XP_016856821.1
XM_017001333.1	1114	Intron			XP_016856822.1
XM_017001334.1	1114	Intron			XP_016856823.1
XM_017001335.1	1114	Intron			XP_016856824.1
XM_017001336.1	1114	Intron			XP_016856825.1
XM_017001337.1	1114	Intron			XP_016856826.1
XM_017001338.1	1114	Intron			XP_016856827.1
XM_017001339.1	1114	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	1114	Missense Mutation	CCT,GCT	P91A	NP_079353.3
XM_005270412.3	1114	Missense Mutation	CCT,GCT	P97A	XP_005270469.1
XM_005270413.4	1114	Missense Mutation	CCT,GCT	P45A	XP_005270470.1
XM_011540569.2	1114	Intron			XP_011538871.1

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