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TGGAGAACATGAGTGGCTTCATCTG[A/T]CCTAAGTGCAAGGTGAGGGCGCGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600280 | ||||||||||||||||||||
Literature Links: |
NUBP1 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 |
NUBP1 - nucleotide binding protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278506.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 224 | NP_001265435.1 | |
NM_001323594.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 212 | NP_001310523.1 | |
NM_001323595.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 235 | NP_001310524.1 | |
NM_001323596.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 235 | NP_001310525.1 | |
NM_001323597.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 186 | NP_001310526.1 | |
NM_002484.3 | 644 | Nonsense Mutation | TGA,TGT | *,C 235 | NP_002475.2 | |
XM_017023252.1 | 644 | Nonsense Mutation | TGA,TGT | *,C 212 | XP_016878741.1 |
TVP23A - trans-golgi network vesicle protein 23 homolog A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079512.3 | 644 | Intron | NP_001072980.1 | |||
NM_001318873.1 | 644 | Intron | NP_001305802.1 | |||
XM_006720944.3 | 644 | Intron | XP_006721007.1 | |||
XM_011522654.2 | 644 | Intron | XP_011520956.1 | |||
XM_017023649.1 | 644 | Intron | XP_016879138.1 | |||
XM_017023650.1 | 644 | Intron | XP_016879139.1 | |||
XM_017023651.1 | 644 | Intron | XP_016879140.1 |