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TTTAGCTTCGGTTTAGGTCCCAGAA[A/G]AGCCCCTGGGCCCCCTGCAGAACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616813 MIM: 603354 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AGAP3 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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AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 | ||||||
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There are no transcripts associated with this gene. |
GBX1 - gastrulation brain homeobox 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098834.2 | 699 | Missense Mutation | CTT,TTT | L,F 229 | NP_001092304.1 | |
XM_017011964.1 | 699 | Missense Mutation | CTT,TTT | L,F 70 | XP_016867453.1 | |
XM_017011965.1 | 699 | Missense Mutation | CTT,TTT | L,F 69 | XP_016867454.1 |