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AAAAAATCAGCAGCTGAAAGAACCA[A/G]AGGCAGCAGGGCCTGTGGGGACAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107325 MIM: 126380 MIM: 607463 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CD3EAP 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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CD3EAP - CD3e molecule associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297590.1 | 2002 | Missense Mutation | AAG,GAG | K,E 227 | NP_001284519.1 | |
NM_012099.1 | 2002 | Missense Mutation | AAG,GAG | K,E 225 | NP_036231.1 | |
XM_017026180.1 | 2002 | Missense Mutation | AAG,GAG | K,E 47 | XP_016881669.1 | |
XM_017026181.1 | 2002 | Missense Mutation | AAG,GAG | K,E 47 | XP_016881670.1 |
ERCC1 - ERCC excision repair 1, endonuclease non-catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166049.1 | 2002 | UTR 3 | NP_001159521.1 | |||
NM_001983.3 | 2002 | UTR 3 | NP_001974.1 | |||
NM_202001.2 | 2002 | Intron | NP_973730.1 | |||
XM_005258634.1 | 2002 | Intron | XP_005258691.1 | |||
XM_005258635.2 | 2002 | Intron | XP_005258692.1 | |||
XM_005258636.4 | 2002 | Intron | XP_005258693.1 | |||
XM_005258637.1 | 2002 | Intron | XP_005258694.1 | |||
XM_011526610.2 | 2002 | Intron | XP_011524912.1 | |||
XM_017026459.1 | 2002 | Intron | XP_016881948.1 | |||
XM_017026460.1 | 2002 | UTR 3 | XP_016881949.1 | |||
XM_017026461.1 | 2002 | UTR 3 | XP_016881950.1 | |||
XM_017026462.1 | 2002 | UTR 3 | XP_016881951.1 | |||
XM_017026463.1 | 2002 | UTR 3 | XP_016881952.1 | |||
XM_017026464.1 | 2002 | UTR 3 | XP_016881953.1 | |||
XM_017026465.1 | 2002 | UTR 3 | XP_016881954.1 | |||
XM_017026466.1 | 2002 | UTR 3 | XP_016881955.1 |
PPP1R13L - protein phosphatase 1 regulatory subunit 13 like | ||||||
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There are no transcripts associated with this gene. |