Product Details

SNP ID
rs201394536
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5386820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTGCTGTTGATAATCCTTTTTCA[C/T]AGTAACCTTAAGTATTAAAATAATA
Phenotype
MIM: 602552 MIM: 603616
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUP88 PubMed Links

Gene Details

Gene
NUP88
Gene Name
nucleoporin 88
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320653.1 2237 Missense Mutation ATG,GTG M700V NP_001307582.1
NM_002532.5 2237 Missense Mutation ATG,GTG M684V NP_002523.2
XM_011523893.2 2237 Missense Mutation ATG,GTG M569V XP_011522195.1
XM_017024694.1 2237 Missense Mutation ATG,GTG M553V XP_016880183.1
Gene
RABEP1
Gene Name
rabaptin, RAB GTPase binding effector protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083585.2 2237 Intron NP_001077054.1
NM_001291581.1 2237 Intron NP_001278510.1
NM_001291582.1 2237 Intron NP_001278511.1
NM_004703.5 2237 Intron NP_004694.2
XM_011524060.1 2237 Intron XP_011522362.1
XM_017025294.1 2237 Intron XP_016880783.1
XM_017025295.1 2237 Intron XP_016880784.1

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