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GTGGCCTCGCCAGGTGGCTTGAACT[A/G]TCTTCGCTGCCATTTGCTGCTGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600128 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA1683 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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KIAA1683 - KIAA1683 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145304.1 | 4202 | Missense Mutation | ACA,ATA | T,I 1329 | NP_001138776.1 | |
NM_001145305.1 | 4202 | Missense Mutation | ACA,ATA | T,I 1096 | NP_001138777.1 | |
NM_025249.3 | 4202 | Missense Mutation | ACA,ATA | T,I 1142 | NP_079525.1 | |
XM_005260084.1 | 4202 | Missense Mutation | ACA,ATA | T,I 1329 | XP_005260141.1 | |
XM_011528324.1 | 4202 | Missense Mutation | ACA,ATA | T,I 1283 | XP_011526626.1 |
LOC729966 - uncharacterized LOC729966 | ||||||
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There are no transcripts associated with this gene. |
PDE4C - phosphodiesterase 4C | ||||||
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There are no transcripts associated with this gene. |