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AGGGTCCTGCGGGCCTTCCGAGTGC[C/G]CAGCGACTTCCACGCTCGTCACGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 611354 | ||||||||||||||||||||
Literature Links: |
ACAP3 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) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ACAP3 - ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 | ||||||
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There are no transcripts associated with this gene. |
CPSF3L - cleavage and polyadenylation specific factor 3-like | ||||||
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There are no transcripts associated with this gene. |
MIR6727 - microRNA 6727 | ||||||
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There are no transcripts associated with this gene. |
PUSL1 - pseudouridylate synthase-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153339.1 | 377 | Missense Mutation | CCC,CGC | P,R 116 | NP_699170.1 | |
XM_005244720.3 | 377 | Missense Mutation | CCC,CGC | P,R 116 | XP_005244777.1 |