Product Details

SNP ID
rs140309737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116692146 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCAGATATTAGTTCCACTGTAC[C/T]CATTCCAGAGGTATACTTTACCAAA
Phenotype
MIM: 604545
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KPNA5 PubMed Links

Gene Details

Gene
KPNA5
Gene Name
karyopherin subunit alpha 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002269.2 342 Missense Mutation CCC,CTC P77L NP_002260.2
XM_011535805.1 342 Missense Mutation CCC,CTC P97L XP_011534107.1
XM_017010838.1 342 Missense Mutation CCC,CTC P97L XP_016866327.1
XM_017010839.1 342 Missense Mutation CCC,CTC P77L XP_016866328.1
XM_017010840.1 342 Missense Mutation CCC,CTC P74L XP_016866329.1
XM_017010841.1 342 Intron XP_016866330.1
XM_017010842.1 342 UTR 5 XP_016866331.1
XM_017010843.1 342 UTR 5 XP_016866332.1

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