Product Details

SNP ID

rs147480076

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:45329389 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATCCAGGACTTGCTGGCCCATGC[A/G]GGGCTTTTTCCGACTGCACGGAGAG

Phenotype

MIM: 604933

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HPDL PubMed Links

Gene Details

Gene

HPDL

Gene Name

4-hydroxyphenylpyruvate dioxygenase like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032756.2	1535	Intron			NP_116145.1

Gene

MUTYH

Gene Name

mutY DNA glycosylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048171.1	1535	Missense Mutation	CGC,TGC	R509C	NP_001041636.1
NM_001048172.1	1535	Missense Mutation	CGC,TGC	R496C	NP_001041637.1
NM_001048173.1	1535	Missense Mutation	CGC,TGC	R495C	NP_001041638.1
NM_001048174.1	1535	Missense Mutation	CGC,TGC	R495C	NP_001041639.1
NM_001128425.1	1535	Missense Mutation	CGC,TGC	R523C	NP_001121897.1
NM_001293190.1	1535	Missense Mutation	CGC,TGC	R510C	NP_001280119.1
NM_001293191.1	1535	Missense Mutation	CGC,TGC	R506C	NP_001280120.1
NM_001293192.1	1535	Missense Mutation	CGC,TGC	R403C	NP_001280121.1
NM_001293195.1	1535	Missense Mutation	CGC,TGC	R495C	NP_001280124.1
NM_001293196.1	1535	Missense Mutation	CGC,TGC	R403C	NP_001280125.1
NM_012222.2	1535	Missense Mutation	CGC,TGC	R520C	NP_036354.1
XM_011541497.2	1535	Missense Mutation	CGC,TGC	R515C	XP_011539799.1
XM_011541498.1	1535	Missense Mutation	CGC,TGC	R509C	XP_011539800.1
XM_011541499.1	1535	Missense Mutation	CGC,TGC	R509C	XP_011539801.1
XM_011541500.2	1535	Missense Mutation	CGC,TGC	R509C	XP_011539802.1
XM_011541501.2	1535	Missense Mutation	CGC,TGC	R509C	XP_011539803.1
XM_011541502.2	1535	Missense Mutation	CGC,TGC	R509C	XP_011539804.1
XM_011541503.2	1535	Missense Mutation	CGC,TGC	R509C	XP_011539805.1
XM_011541504.2	1535	Missense Mutation	CGC,TGC	R506C	XP_011539806.1
XM_011541505.2	1535	Missense Mutation	CGC,TGC	R369C	XP_011539807.1
XM_011541506.1	1535	Missense Mutation	CGC,TGC	R369C	XP_011539808.1
XM_011541507.2	1535	Missense Mutation	CGC,TGC	R357C	XP_011539809.2
XM_017001331.1	1535	Missense Mutation	CGC,TGC	R509C	XP_016856820.1
XM_017001332.1	1535	Missense Mutation	CGC,TGC	R509C	XP_016856821.1
XM_017001333.1	1535	Missense Mutation	CGC,TGC	R509C	XP_016856822.1
XM_017001334.1	1535	Missense Mutation	CGC,TGC	R496C	XP_016856823.1
XM_017001335.1	1535	Missense Mutation	CGC,TGC	R403C	XP_016856824.1
XM_017001336.1	1535	Missense Mutation	CGC,TGC	R380C	XP_016856825.1
XM_017001337.1	1535	Missense Mutation	CGC,TGC	R380C	XP_016856826.1
XM_017001338.1	1535	Missense Mutation	CGC,TGC	R380C	XP_016856827.1
XM_017001339.1	1535	Missense Mutation	CGC,TGC	R380C	XP_016856828.1

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