Product Details

SNP ID
rs148437166
Assay Type
Functionally tested
NCBI dbSNP Submissions
20
Location
Chr.1:59821877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAGCTGCAGACATTCAATACTG[C/T]CTCACCTTGTCAAGATGTCAAACAG
Phenotype
MIM: 607820
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HOOK1 PubMed Links

Gene Details

Gene
HOOK1
Gene Name
hook microtubule-tethering protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015888.4 279 Missense Mutation GCC,GTC A28V NP_056972.1
XM_006710676.1 279 Missense Mutation GCC,GTC A28V XP_006710739.1
XM_011541562.2 279 UTR 5 XP_011539864.1
XM_011541563.1 279 Missense Mutation GCC,GTC A28V XP_011539865.1
XM_017001424.1 279 Missense Mutation GCC,GTC A28V XP_016856913.1

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