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TACTAGTTGATTCCAGGCGTGAATT[C/G]CAAGAAGAACCAAATGTATTTTGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 170285 | ||||||||||||||||||||
Literature Links: |
NUP85 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NUP85 - nucleoporin 85 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303276.1 | 360 | Intron | NP_001290205.1 | |||
NM_024844.4 | 360 | Missense Mutation | TCC,TGC | S,C 18 | NP_079120.1 | |
XM_005257690.2 | 360 | Missense Mutation | TCC,TGC | S,C 18 | XP_005257747.1 | |
XM_005257692.3 | 360 | Intron | XP_005257749.1 | |||
XM_006722094.1 | 360 | Missense Mutation | TCC,TGC | S,C 18 | XP_006722157.1 | |
XM_011525267.1 | 360 | UTR 5 | XP_011523569.1 | |||
XM_011525268.1 | 360 | Missense Mutation | TCC,TGC | S,C 18 | XP_011523570.1 | |
XM_017025108.1 | 360 | Missense Mutation | TCC,TGC | S,C 18 | XP_016880597.1 | |
XM_017025109.1 | 360 | Intron | XP_016880598.1 | |||
XM_017025110.1 | 360 | Intron | XP_016880599.1 |