Product Details

SNP ID

rs149814343

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:45341078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACCCTCCTAACCCCCAGGTGGT[C/G]TCAGCAAAAGCACAACATCTGGGGA

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	901	Intron			NP_001041636.1
NM_001048172.1	901	Intron			NP_001041637.1
NM_001048173.1	901	Intron			NP_001041638.1
NM_001048174.1	901	Intron			NP_001041639.1
NM_001128425.1	901	Intron			NP_001121897.1
NM_001293190.1	901	Intron			NP_001280119.1
NM_001293191.1	901	Intron			NP_001280120.1
NM_001293192.1	901	Intron			NP_001280121.1
NM_001293195.1	901	Intron			NP_001280124.1
NM_001293196.1	901	Intron			NP_001280125.1
NM_012222.2	901	Intron			NP_036354.1
XM_011541497.2	901	Intron			XP_011539799.1
XM_011541498.1	901	Intron			XP_011539800.1
XM_011541499.1	901	Intron			XP_011539801.1
XM_011541500.2	901	Intron			XP_011539802.1
XM_011541501.2	901	Intron			XP_011539803.1
XM_011541502.2	901	Intron			XP_011539804.1
XM_011541503.2	901	Intron			XP_011539805.1
XM_011541504.2	901	Intron			XP_011539806.1
XM_011541505.2	901	Intron			XP_011539807.1
XM_011541506.1	901	Intron			XP_011539808.1
XM_011541507.2	901	Intron			XP_011539809.2
XM_017001331.1	901	Intron			XP_016856820.1
XM_017001332.1	901	Intron			XP_016856821.1
XM_017001333.1	901	Intron			XP_016856822.1
XM_017001334.1	901	Intron			XP_016856823.1
XM_017001335.1	901	Intron			XP_016856824.1
XM_017001336.1	901	Intron			XP_016856825.1
XM_017001337.1	901	Intron			XP_016856826.1
XM_017001338.1	901	Intron			XP_016856827.1
XM_017001339.1	901	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	901	Missense Mutation	CTC,GTC	L20V	NP_079353.3
XM_005270412.3	901	Missense Mutation	CTC,GTC	L26V	XP_005270469.1
XM_005270413.4	901	UTR 5			XP_005270470.1
XM_011540569.2	901	UTR 5			XP_011538871.1

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