Product Details

SNP ID

rs144501580

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:43451957 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCCTGCTGGGGCGTGTCCAGGAA[A/G]TACTGGGGGTCAGTGATGCGGGTGT

Phenotype

MIM: 615463

Polymorphism

A/G, Transition 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	TAC,TAT	Y161Y	NP_001177809.1
NM_001243526.1	1006	Silent Mutation	TAC,TAT	Y186Y	NP_001230455.1
NM_031207.5	1006	Silent Mutation	TAC,TAT	Y161Y	NP_112484.3
XM_005271239.4	1006	Silent Mutation	TAC,TAT	Y186Y	XP_005271296.1
XM_005271240.4	1006	Silent Mutation	TAC,TAT	Y152Y	XP_005271297.1
XM_006710937.3	1006	Silent Mutation	TAC,TAT	Y186Y	XP_006711000.1
XM_011542222.2	1006	Silent Mutation	TAC,TAT	Y152Y	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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