Product Details

SNP ID

rs200283548

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:43451305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGTAGCCAACTCAAGCCCTCTACT[C/G]TGTCTCCTGCAGGGAGAGGGAGGCC

Phenotype

MIM: 615463

Polymorphism

C/G, 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	963	Missense Mutation	ACA,AGA	T256R	NP_001177809.1
NM_001243526.1	963	UTR 3			NP_001230455.1
NM_031207.5	963	UTR 3			NP_112484.3
XM_005271239.4	963	Missense Mutation	ACA,AGA	T281R	XP_005271296.1
XM_005271240.4	963	Missense Mutation	ACA,AGA	T247R	XP_005271297.1
XM_006710937.3	963	Intron			XP_006711000.1
XM_011542222.2	963	UTR 3			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	963	UTR 3			NP_056099.3
XM_005270686.3	963	Intron			XP_005270743.1
XM_006710501.3	963	Intron			XP_006710564.1
XM_011541106.2	963	Intron			XP_011539408.1
XM_011541107.2	963	Intron			XP_011539409.1
XM_017000819.1	963	Intron			XP_016856308.1
XM_017000820.1	963	Intron			XP_016856309.1
XM_017000821.1	963	Intron			XP_016856310.1

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