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TTCTCCCACTTCAAGCGGAAAACCT[C/T]GTATCTGTGAGTATCTGAAAAGAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 147485 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPBP1L1 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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GPBP1L1 - GC-rich promoter binding protein 1 like 1 | ||||||
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There are no transcripts associated with this gene. |
IPP - intracisternal A particle-promoted polypeptide | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145349.1 | 1933 | Missense Mutation | AAG,GAG | K,E 556 | NP_001138821.1 | |
NM_005897.2 | 1933 | Intron | NP_005888.1 | |||
XM_005270839.4 | 1933 | Intron | XP_005270896.1 | |||
XM_006710623.3 | 1933 | Intron | XP_006710686.1 | |||
XM_011541394.2 | 1933 | Intron | XP_011539696.1 | |||
XM_017001210.1 | 1933 | Intron | XP_016856699.1 |
TMEM69 - transmembrane protein 69 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016486.3 | 1933 | Intron | NP_057570.2 |