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GTTGAAACTCCGATGTTTTCGGGGT[C/T]GATTTCGAAGTTTATCGTCCTTGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606645 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARAP2 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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ARAP2 - ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015230.3 | 5510 | Missense Mutation | CAA,CGA | Q,R 1626 | NP_056045.2 | |
XM_017007698.1 | 5510 | Intron | XP_016863187.1 | |||
XM_017007699.1 | 5510 | Missense Mutation | CAA,CGA | Q,R 1626 | XP_016863188.1 | |
XM_017007700.1 | 5510 | Missense Mutation | CAA,CGA | Q,R 1603 | XP_016863189.1 | |
XM_017007701.1 | 5510 | Missense Mutation | CAA,CGA | Q,R 1581 | XP_016863190.1 | |
XM_017007702.1 | 5510 | Missense Mutation | CAA,CGA | Q,R 1558 | XP_016863191.1 |