Product Details

SNP ID

rs58131089

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:43451806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCCCCTTCCACTTACCATTTGTA[A/T]TTGGAGGTTGGGTCTTCCTACCTTC

Phenotype

MIM: 615463

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HYI PubMed Links

Gene Details

Gene

HYI

Gene Name

hydroxypyruvate isomerase (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190880.2	1070	Missense Mutation	ATA,TTA	I183L	NP_001177809.1
NM_001243526.1	1070	Missense Mutation	ATA,TTA	I208L	NP_001230455.1
NM_031207.5	1070	Missense Mutation	ATA,TTA	I183L	NP_112484.3
XM_005271239.4	1070	Missense Mutation	ATA,TTA	I208L	XP_005271296.1
XM_005271240.4	1070	Missense Mutation	ATA,TTA	I174L	XP_005271297.1
XM_006710937.3	1070	Missense Mutation	ATA,TTA	I208L	XP_006711000.1
XM_011542222.2	1070	Missense Mutation	ATA,TTA	I174L	XP_011540524.1

Gene

MIR6735

Gene Name

microRNA 6735

There are no transcripts associated with this gene.

Gene

SZT2

Gene Name

seizure threshold 2 homolog (mouse)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015284.3	1070	UTR 3			NP_056099.3
XM_005270686.3	1070	Intron			XP_005270743.1
XM_006710501.3	1070	Intron			XP_006710564.1
XM_011541106.2	1070	Intron			XP_011539408.1
XM_011541107.2	1070	Intron			XP_011539409.1
XM_017000819.1	1070	Intron			XP_016856308.1
XM_017000820.1	1070	Intron			XP_016856309.1
XM_017000821.1	1070	Intron			XP_016856310.1

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