Product Details

SNP ID
rs1071705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5386713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTGGAAGTATTTACTTACTCCTC[C/T]TTCAGGATGGACTGAATGCACTTTC
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 2344 Silent Mutation NP_001307582.1
NM_002532.5 2344 Silent Mutation NP_002523.2
XM_011523893.2 2344 Silent Mutation XP_011522195.1
XM_017024694.1 2344 Silent Mutation 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 2344 Intron NP_001077054.1
NM_001291581.1 2344 Intron NP_001278510.1
NM_001291582.1 2344 Intron NP_001278511.1
NM_004703.5 2344 Intron NP_004694.2
XM_011524060.1 2344 Intron XP_011522362.1
XM_017025294.1 2344 Intron XP_016880783.1
XM_017025295.1 2344 Intron XP_016880784.1

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