Product Details

SNP ID

rs121908383

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:45331502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGCAGGGCCTTGCGCTGAAGC[T/C]GCTCTGAGGGCTCCCAGGTCACGGA

Phenotype

MIM: 604933 MIM: 613931

Polymorphism

T/C, 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	1209	Missense Mutation	CAG,CGG	Q400R	NP_001041636.1
NM_001048172.1	1209	Missense Mutation	CAG,CGG	Q387R	NP_001041637.1
NM_001048173.1	1209	Missense Mutation	CAG,CGG	Q386R	NP_001041638.1
NM_001048174.1	1209	Missense Mutation	CAG,CGG	Q386R	NP_001041639.1
NM_001128425.1	1209	Missense Mutation	CAG,CGG	Q414R	NP_001121897.1
NM_001293190.1	1209	Missense Mutation	CAG,CGG	Q401R	NP_001280119.1
NM_001293191.1	1209	Missense Mutation	CAG,CGG	Q397R	NP_001280120.1
NM_001293192.1	1209	Missense Mutation	CAG,CGG	Q294R	NP_001280121.1
NM_001293195.1	1209	Missense Mutation	CAG,CGG	Q386R	NP_001280124.1
NM_001293196.1	1209	Missense Mutation	CAG,CGG	Q294R	NP_001280125.1
NM_012222.2	1209	Missense Mutation	CAG,CGG	Q411R	NP_036354.1
XM_011541497.2	1209	Missense Mutation	CAG,CGG	Q406R	XP_011539799.1
XM_011541498.1	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539800.1
XM_011541499.1	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539801.1
XM_011541500.2	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539802.1
XM_011541501.2	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539803.1
XM_011541502.2	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539804.1
XM_011541503.2	1209	Missense Mutation	CAG,CGG	Q400R	XP_011539805.1
XM_011541504.2	1209	Missense Mutation	CAG,CGG	Q397R	XP_011539806.1
XM_011541505.2	1209	Missense Mutation	CAG,CGG	Q260R	XP_011539807.1
XM_011541506.1	1209	Missense Mutation	CAG,CGG	Q260R	XP_011539808.1
XM_011541507.2	1209	Missense Mutation	CAG,CGG	Q248R	XP_011539809.2
XM_017001331.1	1209	Missense Mutation	CAG,CGG	Q400R	XP_016856820.1
XM_017001332.1	1209	Missense Mutation	CAG,CGG	Q400R	XP_016856821.1
XM_017001333.1	1209	Missense Mutation	CAG,CGG	Q400R	XP_016856822.1
XM_017001334.1	1209	Missense Mutation	CAG,CGG	Q387R	XP_016856823.1
XM_017001335.1	1209	Missense Mutation	CAG,CGG	Q294R	XP_016856824.1
XM_017001336.1	1209	Missense Mutation	CAG,CGG	Q271R	XP_016856825.1
XM_017001337.1	1209	Missense Mutation	CAG,CGG	Q271R	XP_016856826.1
XM_017001338.1	1209	Missense Mutation	CAG,CGG	Q271R	XP_016856827.1
XM_017001339.1	1209	Missense Mutation	CAG,CGG	Q271R	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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