Product Details

SNP ID

rs142648563

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:43451798 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCGAAGTACCCCCTTCCACTTAC[A/C]ATTTGTAATTGGAGGTTGGGTCTTC

Phenotype

MIM: 615463

Polymorphism

A/C, 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	1078	Missense Mutation	ATG,ATT	M185I	NP_001177809.1
NM_001243526.1	1078	Missense Mutation	ATG,ATT	M210I	NP_001230455.1
NM_031207.5	1078	Missense Mutation	ATG,ATT	M185I	NP_112484.3
XM_005271239.4	1078	Missense Mutation	ATG,ATT	M210I	XP_005271296.1
XM_005271240.4	1078	Missense Mutation	ATG,ATT	M176I	XP_005271297.1
XM_006710937.3	1078	Missense Mutation	ATG,ATT	M210I	XP_006711000.1
XM_011542222.2	1078	Missense Mutation	ATG,ATT	M176I	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	1078	UTR 3			NP_056099.3
XM_005270686.3	1078	Intron			XP_005270743.1
XM_006710501.3	1078	Intron			XP_006710564.1
XM_011541106.2	1078	Intron			XP_011539408.1
XM_011541107.2	1078	Intron			XP_011539409.1
XM_017000819.1	1078	Intron			XP_016856308.1
XM_017000820.1	1078	Intron			XP_016856309.1
XM_017000821.1	1078	Intron			XP_016856310.1

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