Product Details

SNP ID

rs56030694

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:45344888 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCAGGCCTATGCCTGAGGTGGA[C/G]AAGGTGGCTGGAGTTGAGCCTGCTG

Phenotype

MIM: 604933 MIM: 604746 MIM: 613931

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MUTYH PubMed Links

Gene Details

Gene

MUTYH

Gene Name

mutY DNA glycosylase

There are no transcripts associated with this gene.

Gene

TESK2

Gene Name

testis-specific kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320800.1	2399	Missense Mutation	TTC,TTG	F473L	NP_001307729.1
NM_007170.2	2399	Missense Mutation	TTC,TTG	F556L	NP_009101.2
XM_005270355.3	2399	Missense Mutation	TTC,TTG	F507L	XP_005270412.1
XM_006710287.2	2399	Missense Mutation	TTC,TTG	F556L	XP_006710350.1
XM_011540497.1	2399	Missense Mutation	TTC,TTG	F556L	XP_011538799.1
XM_011540500.2	2399	Intron			XP_011538802.1
XM_017000047.1	2399	Missense Mutation	TTC,TTG	F507L	XP_016855536.1
XM_017000048.1	2399	Missense Mutation	TTC,TTG	F348L	XP_016855537.1
XM_017000049.1	2399	Missense Mutation	TTC,TTG	F348L	XP_016855538.1

Gene

TOE1

Gene Name

target of EGR1, member 1 (nuclear)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025077.3	2399	Intron			NP_079353.3
XM_005270412.3	2399	Intron			XP_005270469.1
XM_005270413.4	2399	Intron			XP_005270470.1
XM_011540569.2	2399	Intron			XP_011538871.1

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