Product Details

SNP ID
rs118032006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5386150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGATAATTCTACCTGTTTTACAAT[A/G]TGGGTTTAAGCCTTCAATGGTGTTC
Phenotype
MIM: 602552 MIM: 603616
Polymorphism
A/G, 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 2469 UTR 3 NP_001307582.1
NM_002532.5 2469 UTR 3 NP_002523.2
XM_011523893.2 2469 UTR 3 XP_011522195.1
XM_017024694.1 2469 UTR 3 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 2469 UTR 3 NP_001077054.1
NM_001291581.1 2469 UTR 3 NP_001278510.1
NM_001291582.1 2469 Intron NP_001278511.1
NM_004703.5 2469 UTR 3 NP_004694.2
XM_011524060.1 2469 Intron XP_011522362.1
XM_017025294.1 2469 Intron XP_016880783.1
XM_017025295.1 2469 Intron XP_016880784.1

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