Product Details

SNP ID

rs192416700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:176881189 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACACAGCGAGGGGCCAGCTCCC[A/G]CACTGTGGCCGCCACCAGGCTGGAG

Phenotype

MIM: 142570 MIM: 607869

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HK3 PubMed Links

Gene Details

Gene

HK3

Gene Name

hexokinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002115.2	2748	Silent Mutation			NP_002106.2
XM_011534540.2	2748	Intron			XP_011532842.1
XM_017009411.1	2748	Missense Mutation			XP_016864900.1

Gene

UNC5A

Gene Name

unc-5 netrin receptor A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133369.2	2748	Intron			NP_588610.2
XM_006714927.1	2748	Intron			XP_006714990.1
XM_006714928.1	2748	Intron			XP_006714991.1
XM_011534686.1	2748	Intron			XP_011532988.1
XM_011534687.2	2748	Intron			XP_011532989.1

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