Product Details

SNP ID
rs148786616
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5386987 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTAGTTTGGATCTATTCCTACCTG[G/T]TTGATGGCATTGCCCAAATGTCGAA
Phenotype
MIM: 602552 MIM: 603616
Polymorphism
G/T, Transversion 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 2227 Missense Mutation AAA,AAC K696N NP_001307582.1
NM_002532.5 2227 Missense Mutation AAA,AAC K680N NP_002523.2
XM_011523893.2 2227 Missense Mutation AAA,AAC K565N XP_011522195.1
XM_017024694.1 2227 Missense Mutation AAA,AAC K549N 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 2227 Intron NP_001077054.1
NM_001291581.1 2227 Intron NP_001278510.1
NM_001291582.1 2227 Intron NP_001278511.1
NM_004703.5 2227 Intron NP_004694.2
XM_011524060.1 2227 Intron XP_011522362.1
XM_017025294.1 2227 Intron XP_016880783.1
XM_017025295.1 2227 Intron XP_016880784.1

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