Product Details

SNP ID

rs144309934

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:45331327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCAGCTTGATGTGAGAGAAGGTG[C/T]GGACAACCTGGAGGAAGGGTCAAGG

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	1299	Missense Mutation	CAC,CGC	H430R	NP_001041636.1
NM_001048172.1	1299	Missense Mutation	CAC,CGC	H417R	NP_001041637.1
NM_001048173.1	1299	Missense Mutation	CAC,CGC	H416R	NP_001041638.1
NM_001048174.1	1299	Missense Mutation	CAC,CGC	H416R	NP_001041639.1
NM_001128425.1	1299	Missense Mutation	CAC,CGC	H444R	NP_001121897.1
NM_001293190.1	1299	Missense Mutation	CAC,CGC	H431R	NP_001280119.1
NM_001293191.1	1299	Missense Mutation	CAC,CGC	H427R	NP_001280120.1
NM_001293192.1	1299	Missense Mutation	CAC,CGC	H324R	NP_001280121.1
NM_001293195.1	1299	Missense Mutation	CAC,CGC	H416R	NP_001280124.1
NM_001293196.1	1299	Missense Mutation	CAC,CGC	H324R	NP_001280125.1
NM_012222.2	1299	Missense Mutation	CAC,CGC	H441R	NP_036354.1
XM_011541497.2	1299	Missense Mutation	CAC,CGC	H436R	XP_011539799.1
XM_011541498.1	1299	Missense Mutation	CAC,CGC	H430R	XP_011539800.1
XM_011541499.1	1299	Missense Mutation	CAC,CGC	H430R	XP_011539801.1
XM_011541500.2	1299	Missense Mutation	CAC,CGC	H430R	XP_011539802.1
XM_011541501.2	1299	Missense Mutation	CAC,CGC	H430R	XP_011539803.1
XM_011541502.2	1299	Missense Mutation	CAC,CGC	H430R	XP_011539804.1
XM_011541503.2	1299	Missense Mutation	CAC,CGC	H430R	XP_011539805.1
XM_011541504.2	1299	Missense Mutation	CAC,CGC	H427R	XP_011539806.1
XM_011541505.2	1299	Missense Mutation	CAC,CGC	H290R	XP_011539807.1
XM_011541506.1	1299	Missense Mutation	CAC,CGC	H290R	XP_011539808.1
XM_011541507.2	1299	Missense Mutation	CAC,CGC	H278R	XP_011539809.2
XM_017001331.1	1299	Missense Mutation	CAC,CGC	H430R	XP_016856820.1
XM_017001332.1	1299	Missense Mutation	CAC,CGC	H430R	XP_016856821.1
XM_017001333.1	1299	Missense Mutation	CAC,CGC	H430R	XP_016856822.1
XM_017001334.1	1299	Missense Mutation	CAC,CGC	H417R	XP_016856823.1
XM_017001335.1	1299	Missense Mutation	CAC,CGC	H324R	XP_016856824.1
XM_017001336.1	1299	Missense Mutation	CAC,CGC	H301R	XP_016856825.1
XM_017001337.1	1299	Missense Mutation	CAC,CGC	H301R	XP_016856826.1
XM_017001338.1	1299	Missense Mutation	CAC,CGC	H301R	XP_016856827.1
XM_017001339.1	1299	Missense Mutation	CAC,CGC	H301R	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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