Product Details

SNP ID

rs151144295

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:45331202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGCCTTTTTCATGGCGGTGGAAA[C/G]AGCTGCGGTGTGAAATTCCTCCTGC

Phenotype

MIM: 604933 MIM: 613931

Polymorphism

C/G, Transversion 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	1424	Missense Mutation	CTT,GTT	L472V	NP_001041636.1
NM_001048172.1	1424	Missense Mutation	CTT,GTT	L459V	NP_001041637.1
NM_001048173.1	1424	Missense Mutation	CTT,GTT	L458V	NP_001041638.1
NM_001048174.1	1424	Missense Mutation	CTT,GTT	L458V	NP_001041639.1
NM_001128425.1	1424	Missense Mutation	CTT,GTT	L486V	NP_001121897.1
NM_001293190.1	1424	Missense Mutation	CTT,GTT	L473V	NP_001280119.1
NM_001293191.1	1424	Missense Mutation	CTT,GTT	L469V	NP_001280120.1
NM_001293192.1	1424	Missense Mutation	CTT,GTT	L366V	NP_001280121.1
NM_001293195.1	1424	Missense Mutation	CTT,GTT	L458V	NP_001280124.1
NM_001293196.1	1424	Missense Mutation	CTT,GTT	L366V	NP_001280125.1
NM_012222.2	1424	Missense Mutation	CTT,GTT	L483V	NP_036354.1
XM_011541497.2	1424	Missense Mutation	CTT,GTT	L478V	XP_011539799.1
XM_011541498.1	1424	Missense Mutation	CTT,GTT	L472V	XP_011539800.1
XM_011541499.1	1424	Missense Mutation	CTT,GTT	L472V	XP_011539801.1
XM_011541500.2	1424	Missense Mutation	CTT,GTT	L472V	XP_011539802.1
XM_011541501.2	1424	Missense Mutation	CTT,GTT	L472V	XP_011539803.1
XM_011541502.2	1424	Missense Mutation	CTT,GTT	L472V	XP_011539804.1
XM_011541503.2	1424	Missense Mutation	CTT,GTT	L472V	XP_011539805.1
XM_011541504.2	1424	Missense Mutation	CTT,GTT	L469V	XP_011539806.1
XM_011541505.2	1424	Missense Mutation	CTT,GTT	L332V	XP_011539807.1
XM_011541506.1	1424	Missense Mutation	CTT,GTT	L332V	XP_011539808.1
XM_011541507.2	1424	Missense Mutation	CTT,GTT	L320V	XP_011539809.2
XM_017001331.1	1424	Missense Mutation	CTT,GTT	L472V	XP_016856820.1
XM_017001332.1	1424	Missense Mutation	CTT,GTT	L472V	XP_016856821.1
XM_017001333.1	1424	Missense Mutation	CTT,GTT	L472V	XP_016856822.1
XM_017001334.1	1424	Missense Mutation	CTT,GTT	L459V	XP_016856823.1
XM_017001335.1	1424	Missense Mutation	CTT,GTT	L366V	XP_016856824.1
XM_017001336.1	1424	Missense Mutation	CTT,GTT	L343V	XP_016856825.1
XM_017001337.1	1424	Missense Mutation	CTT,GTT	L343V	XP_016856826.1
XM_017001338.1	1424	Missense Mutation	CTT,GTT	L343V	XP_016856827.1
XM_017001339.1	1424	Missense Mutation	CTT,GTT	L343V	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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