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Search Thermo Fisher Scientific
GGCAGGGGTCAGGGGCTGGGTTCCT[C/T]AGGCAGCTGGCCTGCATACAGGGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 616597 MIM: 176889 | ||||||||||||||||||||
Literature Links: |
ARL8A 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 |
ARL8A - ADP ribosylation factor like GTPase 8A | ||||||
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There are no transcripts associated with this gene. |
PTPN7 - protein tyrosine phosphatase, non-receptor type 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199797.1 | 1339 | Missense Mutation | AAG,GAG | K,E 430 | NP_001186726.1 | |
NM_002832.3 | 1339 | Missense Mutation | AAG,GAG | K,E 461 | NP_002823.3 | |
NM_080588.2 | 1339 | Missense Mutation | AAG,GAG | K,E 395 | NP_542155.1 | |
XM_011509819.1 | 1339 | Missense Mutation | AAG,GAG | K,E 507 | XP_011508121.1 | |
XM_011509820.2 | 1339 | Missense Mutation | AAG,GAG | K,E 396 | XP_011508122.1 | |
XM_011509821.1 | 1339 | Missense Mutation | AAG,GAG | K,E 350 | XP_011508123.1 | |
XM_011509822.2 | 1339 | Missense Mutation | AAG,GAG | K,E 350 | XP_011508124.1 | |
XM_011509823.1 | 1339 | Intron | XP_011508125.1 | |||
XM_011509824.1 | 1339 | Missense Mutation | AAG,GAG | K,E 231 | XP_011508126.1 | |
XM_017001935.1 | 1339 | Missense Mutation | AAG,GAG | K,E 506 | XP_016857424.1 | |
XM_017001936.1 | 1339 | Missense Mutation | AAG,GAG | K,E 460 | XP_016857425.1 | |
XM_017001937.1 | 1339 | Missense Mutation | AAG,GAG | K,E 355 | XP_016857426.1 |