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GCAGCCAAAATATGCTTCATCTGTC[C/T]AATCATACAATTTAATGTCCTAGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604469 | ||||||||||||||||||||
Literature Links: |
EXOC5 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
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 |
EXOC5 - exocyst complex component 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006544.3 | 1884 | Missense Mutation | AGA,GGA | R,G 545 | NP_006535.1 | |
XM_005267272.3 | 1884 | Missense Mutation | AGA,GGA | R,G 583 | XP_005267329.1 |