Product Details

SNP ID

rs3219494

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:45330526 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCTAGGAGACTTACCATACAGGTC[C/T]CTGGCTGTTGGCCCTGATACACACG

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	1476	Missense Mutation	GAG,GGG	E489G	NP_001041636.1
NM_001048172.1	1476	Missense Mutation	GAG,GGG	E476G	NP_001041637.1
NM_001048173.1	1476	Missense Mutation	GAG,GGG	E475G	NP_001041638.1
NM_001048174.1	1476	Missense Mutation	GAG,GGG	E475G	NP_001041639.1
NM_001128425.1	1476	Missense Mutation	GAG,GGG	E503G	NP_001121897.1
NM_001293190.1	1476	Missense Mutation	GAG,GGG	E490G	NP_001280119.1
NM_001293191.1	1476	Missense Mutation	GAG,GGG	E486G	NP_001280120.1
NM_001293192.1	1476	Missense Mutation	GAG,GGG	E383G	NP_001280121.1
NM_001293195.1	1476	Missense Mutation	GAG,GGG	E475G	NP_001280124.1
NM_001293196.1	1476	Missense Mutation	GAG,GGG	E383G	NP_001280125.1
NM_012222.2	1476	Missense Mutation	GAG,GGG	E500G	NP_036354.1
XM_011541497.2	1476	Missense Mutation	GAG,GGG	E495G	XP_011539799.1
XM_011541498.1	1476	Missense Mutation	GAG,GGG	E489G	XP_011539800.1
XM_011541499.1	1476	Missense Mutation	GAG,GGG	E489G	XP_011539801.1
XM_011541500.2	1476	Missense Mutation	GAG,GGG	E489G	XP_011539802.1
XM_011541501.2	1476	Missense Mutation	GAG,GGG	E489G	XP_011539803.1
XM_011541502.2	1476	Missense Mutation	GAG,GGG	E489G	XP_011539804.1
XM_011541503.2	1476	Missense Mutation	GAG,GGG	E489G	XP_011539805.1
XM_011541504.2	1476	Missense Mutation	GAG,GGG	E486G	XP_011539806.1
XM_011541505.2	1476	Missense Mutation	GAG,GGG	E349G	XP_011539807.1
XM_011541506.1	1476	Missense Mutation	GAG,GGG	E349G	XP_011539808.1
XM_011541507.2	1476	Missense Mutation	GAG,GGG	E337G	XP_011539809.2
XM_017001331.1	1476	Missense Mutation	GAG,GGG	E489G	XP_016856820.1
XM_017001332.1	1476	Missense Mutation	GAG,GGG	E489G	XP_016856821.1
XM_017001333.1	1476	Missense Mutation	GAG,GGG	E489G	XP_016856822.1
XM_017001334.1	1476	Missense Mutation	GAG,GGG	E476G	XP_016856823.1
XM_017001335.1	1476	Missense Mutation	GAG,GGG	E383G	XP_016856824.1
XM_017001336.1	1476	Missense Mutation	GAG,GGG	E360G	XP_016856825.1
XM_017001337.1	1476	Missense Mutation	GAG,GGG	E360G	XP_016856826.1
XM_017001338.1	1476	Missense Mutation	GAG,GGG	E360G	XP_016856827.1
XM_017001339.1	1476	Missense Mutation	GAG,GGG	E360G	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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