Product Details

SNP ID
rs149590428
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35615073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGAAGTTAGAGCTGGAAGCTGCTG[C/T]GACCCGCCTGCGGGCAGAAATCCAG
Phenotype
MIM: 613432
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HAUS5 PubMed Links

Gene Details

Gene
HAUS5
Gene Name
HAUS augmin like complex subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015302.1 189 Missense Mutation GCG,GTG A84V NP_056117.1
XM_011526684.2 189 UTR 5 XP_011524986.1

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