Product Details

SNP ID

rs142545546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:176908564 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCTGCCACTTCCCCTCCACAG[C/T]TGAACATGCTCTTCCACTCCCTTCA

Phenotype

MIM: 142570 MIM: 609433

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HK3 PubMed Links

Gene Details

Gene

HK3

Gene Name

hexokinase 3

There are no transcripts associated with this gene.

Gene

UIMC1

Gene Name

ubiquitin interaction motif containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199297.2	1084	Missense Mutation	ACT,GCT	T603A	NP_001186226.1
NM_001199298.1	1084	Missense Mutation	ACT,GCT	T603A	NP_001186227.1
NM_001317961.1	1084	Missense Mutation	ACT,GCT	T437A	NP_001304890.1
NM_016290.4	1084	Missense Mutation	ACT,GCT	T603A	NP_057374.3
XM_005265930.2	1084	Missense Mutation	ACT,GCT	T603A	XP_005265987.1
XM_005265932.2	1084	Missense Mutation	ACT,GCT	T322A	XP_005265989.1
XM_005265933.2	1084	Missense Mutation	ACT,GCT	T322A	XP_005265990.1
XM_005265934.2	1084	Missense Mutation	ACT,GCT	T300A	XP_005265991.1
XM_005265935.2	1084	Missense Mutation	ACT,GCT	T300A	XP_005265992.1
XM_005265936.2	1084	Missense Mutation	ACT,GCT	T233A	XP_005265993.1
XM_006714871.2	1084	Missense Mutation	ACT,GCT	T603A	XP_006714934.1
XM_006714874.2	1084	Missense Mutation	ACT,GCT	T300A	XP_006714937.1
XM_011534568.2	1084	Intron			XP_011532870.1
XM_011534570.1	1084	Intron			XP_011532872.1
XM_017009574.1	1084	Missense Mutation	ACT,GCT	T525A	XP_016865063.1
XM_017009575.1	1084	Missense Mutation	ACT,GCT	T504A	XP_016865064.1
XM_017009576.1	1084	Missense Mutation	ACT,GCT	T322A	XP_016865065.1
XM_017009577.1	1084	Missense Mutation	ACT,GCT	T322A	XP_016865066.1
XM_017009578.1	1084	Missense Mutation	ACT,GCT	T233A	XP_016865067.1
XM_017009579.1	1084	Missense Mutation	ACT,GCT	T233A	XP_016865068.1

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