Product Details

SNP ID: rs17850048
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:43451262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCACTGGCCAGCCTCTGGGTGGCC[C/G]CGCCTATCCCAGTATGAACGTAGCC
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	1006	Silent Mutation	CGC,CGG	R270R	NP_001177809.1
NM_001243526.1	1006	UTR 3			NP_001230455.1
NM_031207.5	1006	UTR 3			NP_112484.3
XM_005271239.4	1006	Silent Mutation	CGC,CGG	R295R	XP_005271296.1
XM_005271240.4	1006	Silent Mutation	CGC,CGG	R261R	XP_005271297.1
XM_006710937.3	1006	Intron			XP_006711000.1
XM_011542222.2	1006	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	1006	UTR 3			NP_056099.3
XM_005270686.3	1006	Intron			XP_005270743.1
XM_006710501.3	1006	Intron			XP_006710564.1
XM_011541106.2	1006	Intron			XP_011539408.1
XM_011541107.2	1006	Intron			XP_011539409.1
XM_017000819.1	1006	Intron			XP_016856308.1
XM_017000820.1	1006	Intron			XP_016856309.1
XM_017000821.1	1006	Intron			XP_016856310.1

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