Product Details

SNP ID
rs202003795
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:86306374 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCCTGAGGGAATGGGAGGATCT[C/G]TCTACTTTTCTTATCCTGATTCAAA
Phenotype
MIM: 614908
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HIKESHI PubMed Links

Gene Details

Gene
HIKESHI
Gene Name
Hikeshi, heat shock protein nuclear import factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322404.1 175 Missense Mutation CTC,GTC L54V NP_001309333.1
NM_001322407.1 175 Missense Mutation CTC,GTC L15V NP_001309336.1
NM_001322409.1 175 Missense Mutation CTC,GTC L15V NP_001309338.1
NM_016401.3 175 Missense Mutation CTC,GTC L54V NP_057485.2
XM_017017914.1 175 Missense Mutation CTC,GTC L54V XP_016873403.1
XM_017017915.1 175 Missense Mutation CTC,GTC L15V XP_016873404.1

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