Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGTGTCAGAAGTTTACATGATTGC[A/G]GATATCATTGATTTGCTTCACCATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602552 MIM: 603616 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUP88 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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NUP88 - nucleoporin 88 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320653.1 | 2393 | Missense Mutation | CGC,TGC | R,C 752 | NP_001307582.1 | |
NM_002532.5 | 2393 | Missense Mutation | CGC,TGC | R,C 736 | NP_002523.2 | |
XM_011523893.2 | 2393 | Missense Mutation | CGC,TGC | R,C 621 | XP_011522195.1 | |
XM_017024694.1 | 2393 | Missense Mutation | CGC,TGC | R,C 605 | XP_016880183.1 |
RABEP1 - rabaptin, RAB GTPase binding effector protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083585.2 | 2393 | UTR 3 | NP_001077054.1 | |||
NM_001291581.1 | 2393 | UTR 3 | NP_001278510.1 | |||
NM_001291582.1 | 2393 | Intron | NP_001278511.1 | |||
NM_004703.5 | 2393 | UTR 3 | NP_004694.2 | |||
XM_011524060.1 | 2393 | Intron | XP_011522362.1 | |||
XM_017025294.1 | 2393 | Intron | XP_016880783.1 | |||
XM_017025295.1 | 2393 | Intron | XP_016880784.1 |