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TCGGCGCTATGGAGGAGCTCGATGG[A/C]GAGCCAACAGTCACTGTAAGGGTAC
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 | |||
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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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NUP85 - nucleoporin 85 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303276.1 | 325 | UTR 5 | NP_001290205.1 | |||
NM_024844.4 | 325 | Silent Mutation | GGA,GGC | G,G 6 | NP_079120.1 | |
XM_005257690.2 | 325 | Silent Mutation | GGA,GGC | G,G 6 | XP_005257747.1 | |
XM_005257692.3 | 325 | Intron | XP_005257749.1 | |||
XM_006722094.1 | 325 | Silent Mutation | GGA,GGC | G,G 6 | XP_006722157.1 | |
XM_011525267.1 | 325 | UTR 5 | XP_011523569.1 | |||
XM_011525268.1 | 325 | Silent Mutation | GGA,GGC | G,G 6 | XP_011523570.1 | |
XM_017025108.1 | 325 | Silent Mutation | GGA,GGC | G,G 6 | XP_016880597.1 | |
XM_017025109.1 | 325 | UTR 5 | XP_016880598.1 | |||
XM_017025110.1 | 325 | UTR 5 | XP_016880599.1 |