Product Details

SNP ID
rs144253781
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:45165974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAGTATTTTTTGAAATACTTTA[C/T]GCTCACTGGGGAAATACTTCCCCAG
Phenotype
MIM: 604646
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUP50 PubMed Links

Gene Details

Gene
NUP50
Gene Name
nucleoporin 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007172.3 386 Intron NP_009103.2
NM_153645.2 386 Intron NP_705931.1
XM_005261312.1 386 Intron XP_005261369.1
XM_005261314.1 386 Intron XP_005261371.1
XM_006724103.1 386 Intron XP_006724166.1
XM_006724104.1 386 Intron XP_006724167.1
XM_011529833.1 386 UTR 5 XP_011528135.1
XM_017028537.1 386 Intron XP_016884026.1
XM_017028538.1 386 Intron XP_016884027.1
Gene
NUP50-AS1
Gene Name
NUP50 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

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