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GGCTGTTGGTTCTGCTCTGGACATG[C/T]GGGAGGAGAGTGAGCCGTGCCGAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606442 MIM: 609035 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABI2 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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ABI2 - abl-interactor 2 | ||||||
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There are no transcripts associated with this gene. |
RAPH1 - Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203365.3 | 3641 | Intron | NP_976241.1 | |||
NM_213589.2 | 3641 | Missense Mutation | CAC,CGC | H,R 1187 | NP_998754.1 | |
XM_005246777.3 | 3641 | Missense Mutation | CAC,CGC | H,R 1239 | XP_005246834.1 | |
XM_005246779.4 | 3641 | Missense Mutation | CAC,CGC | H,R 1239 | XP_005246836.1 | |
XM_006712695.3 | 3641 | Missense Mutation | CAC,CGC | H,R 1239 | XP_006712758.1 | |
XM_011511646.2 | 3641 | Missense Mutation | CAC,CGC | H,R 1239 | XP_011509948.1 | |
XM_011511647.1 | 3641 | Missense Mutation | CAC,CGC | H,R 1214 | XP_011509949.1 | |
XM_011511648.1 | 3641 | Missense Mutation | CAC,CGC | H,R 1212 | XP_011509950.1 | |
XM_011511649.2 | 3641 | Intron | XP_011509951.1 |