Product Details

SNP ID
rs200319253
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:42561369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAGACTGTTGAAACCCATGTGCC[A/G]GGAAAACTTACCTATTGAAGCTGTT
Phenotype
MIM: 613429
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HAUS2 PubMed Links

Gene Details

Gene
HAUS2
Gene Name
HAUS augmin like complex subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130447.1 505 Missense Mutation CAG,CGG Q88R NP_001123919.1
NM_001323629.1 505 UTR 3 NP_001310558.1
NM_001323630.1 505 Intron NP_001310559.1
NM_001323631.1 505 Missense Mutation CAG,CGG Q25R NP_001310560.1
NM_001323632.1 505 Missense Mutation CAG,CGG Q25R NP_001310561.1
NM_018097.2 505 Missense Mutation CAG,CGG Q119R NP_060567.1
XM_017022396.1 505 Intron XP_016877885.1
XM_017022397.1 505 Intron XP_016877886.1

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