Product Details

SNP ID

rs192816572

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:45331241 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTCCTCCTGCGTCAGCCAGCGAG[C/T]ACCTGGTGGTACGGTGGTCACTGGG

Phenotype

MIM: 604933 MIM: 613931

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPDL PubMed Links

Gene Details

Gene

HPDL

Gene Name

4-hydroxyphenylpyruvate dioxygenase like

There are no transcripts associated with this gene.

Gene

MUTYH

Gene Name

mutY DNA glycosylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048171.1	1385	Missense Mutation	ACT,GCT	T459A	NP_001041636.1
NM_001048172.1	1385	Missense Mutation	ACT,GCT	T446A	NP_001041637.1
NM_001048173.1	1385	Missense Mutation	ACT,GCT	T445A	NP_001041638.1
NM_001048174.1	1385	Missense Mutation	ACT,GCT	T445A	NP_001041639.1
NM_001128425.1	1385	Missense Mutation	ACT,GCT	T473A	NP_001121897.1
NM_001293190.1	1385	Missense Mutation	ACT,GCT	T460A	NP_001280119.1
NM_001293191.1	1385	Missense Mutation	ACT,GCT	T456A	NP_001280120.1
NM_001293192.1	1385	Missense Mutation	ACT,GCT	T353A	NP_001280121.1
NM_001293195.1	1385	Missense Mutation	ACT,GCT	T445A	NP_001280124.1
NM_001293196.1	1385	Missense Mutation	ACT,GCT	T353A	NP_001280125.1
NM_012222.2	1385	Missense Mutation	ACT,GCT	T470A	NP_036354.1
XM_011541497.2	1385	Missense Mutation	ACT,GCT	T465A	XP_011539799.1
XM_011541498.1	1385	Missense Mutation	ACT,GCT	T459A	XP_011539800.1
XM_011541499.1	1385	Missense Mutation	ACT,GCT	T459A	XP_011539801.1
XM_011541500.2	1385	Missense Mutation	ACT,GCT	T459A	XP_011539802.1
XM_011541501.2	1385	Missense Mutation	ACT,GCT	T459A	XP_011539803.1
XM_011541502.2	1385	Missense Mutation	ACT,GCT	T459A	XP_011539804.1
XM_011541503.2	1385	Missense Mutation	ACT,GCT	T459A	XP_011539805.1
XM_011541504.2	1385	Missense Mutation	ACT,GCT	T456A	XP_011539806.1
XM_011541505.2	1385	Missense Mutation	ACT,GCT	T319A	XP_011539807.1
XM_011541506.1	1385	Missense Mutation	ACT,GCT	T319A	XP_011539808.1
XM_011541507.2	1385	Missense Mutation	ACT,GCT	T307A	XP_011539809.2
XM_017001331.1	1385	Missense Mutation	ACT,GCT	T459A	XP_016856820.1
XM_017001332.1	1385	Missense Mutation	ACT,GCT	T459A	XP_016856821.1
XM_017001333.1	1385	Missense Mutation	ACT,GCT	T459A	XP_016856822.1
XM_017001334.1	1385	Missense Mutation	ACT,GCT	T446A	XP_016856823.1
XM_017001335.1	1385	Missense Mutation	ACT,GCT	T353A	XP_016856824.1
XM_017001336.1	1385	Missense Mutation	ACT,GCT	T330A	XP_016856825.1
XM_017001337.1	1385	Missense Mutation	ACT,GCT	T330A	XP_016856826.1
XM_017001338.1	1385	Missense Mutation	ACT,GCT	T330A	XP_016856827.1
XM_017001339.1	1385	Missense Mutation	ACT,GCT	T330A	XP_016856828.1

Gene

TOE1

Gene Name

target of EGR1, member 1 (nuclear)

There are no transcripts associated with this gene.

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