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AAGCTACAGATCCTTTTAGTGCAAG[A/G]TAAGGTTTTATAGCCAGATTCAGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613687 MIM: 176795 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PARPBP 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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PARPBP - PARP1 binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319988.1 | 2090 | UTR 3 | NP_001306917.1 | |||
NM_001319993.1 | 2090 | UTR 3 | NP_001306922.1 | |||
NM_001319994.1 | 2090 | UTR 3 | NP_001306923.1 | |||
NM_001319995.1 | 2090 | Intron | NP_001306924.1 | |||
NM_001319996.1 | 2090 | Intron | NP_001306925.1 | |||
NM_017915.4 | 2090 | UTR 3 | NP_060385.3 | |||
XM_011538509.1 | 2090 | UTR 3 | XP_011536811.1 | |||
XM_011538514.2 | 2090 | UTR 3 | XP_011536816.1 | |||
XM_011538515.1 | 2090 | UTR 3 | XP_011536817.1 | |||
XM_017019534.1 | 2090 | UTR 3 | XP_016875023.1 | |||
XM_017019535.1 | 2090 | UTR 3 | XP_016875024.1 | |||
XM_017019536.1 | 2090 | UTR 3 | XP_016875025.1 | |||
XM_017019537.1 | 2090 | UTR 3 | XP_016875026.1 | |||
XM_017019538.1 | 2090 | UTR 3 | XP_016875027.1 | |||
XM_017019539.1 | 2090 | UTR 3 | XP_016875028.1 | |||
XM_017019540.1 | 2090 | UTR 3 | XP_016875029.1 | |||
XM_017019541.1 | 2090 | Intron | XP_016875030.1 | |||
XM_017019542.1 | 2090 | UTR 3 | XP_016875031.1 | |||
XM_017019543.1 | 2090 | UTR 3 | XP_016875032.1 | |||
XM_017019544.1 | 2090 | UTR 3 | XP_016875033.1 |
PMCH - pro-melanin concentrating hormone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002674.3 | 2090 | Silent Mutation | TAC,TAT | Y,Y 105 | NP_002665.2 | |
XM_017019483.1 | 2090 | Silent Mutation | TAC,TAT | Y,Y 105 | XP_016874972.1 |