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TCAGAGATTACCTAAGCAAATTGAA[A/G]AACGTAATGAAAGACTAAAAGAAGA
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601963 | |||||||||||||||||||||||||||||
Literature Links: |
PWWP2A PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
PWWP2A - PWWP domain containing 2A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130864.1 | 832 | Intron | NP_001124336.1 | |||
NM_001267035.1 | 832 | Intron | NP_001253964.1 | |||
NM_052927.2 | 832 | Intron | NP_443159.1 | |||
XM_005265811.3 | 832 | Intron | XP_005265868.1 | |||
XM_005265812.2 | 832 | Intron | XP_005265869.1 | |||
XM_006714817.3 | 832 | Intron | XP_006714880.1 | |||
XM_011534424.2 | 832 | Intron | XP_011532726.1 | |||
XM_017009009.1 | 832 | Intron | XP_016864498.1 | |||
XM_017009010.1 | 832 | Intron | XP_016864499.1 | |||
XM_017009011.1 | 832 | Intron | XP_016864500.1 | |||
XM_017009012.1 | 832 | Intron | XP_016864501.1 |
TTC1 - tetratricopeptide repeat domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282500.1 | 832 | Missense Mutation | AAA,GAA | K,E 238 | NP_001269429.1 | |
NM_003314.2 | 832 | Missense Mutation | AAA,GAA | K,E 238 | NP_003305.1 |
Set Membership: |
HapMap |