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AGCTCGGATCAGTAGGAACCGTAGC[C/G]ATCCTGGGGGCGAGGGGGGAGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606908 | ||||||||||||||||||||
Literature Links: |
ARFGAP2 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 |
ARFGAP2 - ADP ribosylation factor GTPase activating protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242832.1 | 2274 | Missense Mutation | CGC,GGC | R,G 489 | NP_001229761.1 | |
NM_032389.4 | 2274 | Missense Mutation | CGC,GGC | R,G 517 | NP_115765.2 | |
XM_005253166.1 | 2274 | Missense Mutation | CGC,GGC | R,G 556 | XP_005253223.1 | |
XM_005253167.1 | 2274 | Missense Mutation | CGC,GGC | R,G 545 | XP_005253224.1 | |
XM_005253168.2 | 2274 | Missense Mutation | CGC,GGC | R,G 531 | XP_005253225.1 | |
XM_006718346.1 | 2274 | Missense Mutation | CGC,GGC | R,G 542 | XP_006718409.1 | |
XM_011520405.1 | 2274 | Missense Mutation | CGC,GGC | R,G 503 | XP_011518707.1 | |
XM_017018413.1 | 2274 | Missense Mutation | CGC,GGC | R,G 531 | XP_016873902.1 | |
XM_017018414.1 | 2274 | Missense Mutation | CGC,GGC | R,G 394 | XP_016873903.1 | |
XM_017018415.1 | 2274 | Missense Mutation | CGC,GGC | R,G 380 | XP_016873904.1 |
C11orf49 - chromosome 11 open reading frame 49 | ||||||
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There are no transcripts associated with this gene. |