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AGACGCCAGGTCTGTTCCATGGCCT[C/T]GTACAGGGATGCTGGGCAGCCTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 615790 MIM: 164940 | ||||||||||||||||||||
Literature Links: |
AHDC1 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 |
AHDC1 - AT-hook DNA binding motif containing 1 | ||||||
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There are no transcripts associated with this gene. |
FGR - FGR proto-oncogene, Src family tyrosine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042729.1 | 1693 | Missense Mutation | AAG,GAG | K,E 489 | NP_001036194.1 | |
NM_001042747.1 | 1693 | Missense Mutation | AAG,GAG | K,E 489 | NP_001036212.1 | |
NM_005248.2 | 1693 | Missense Mutation | AAG,GAG | K,E 489 | NP_005239.1 | |
XM_006710452.2 | 1693 | Missense Mutation | AAG,GAG | K,E 489 | XP_006710515.1 | |
XM_011541010.1 | 1693 | Missense Mutation | AAG,GAG | K,E 489 | XP_011539312.1 | |
XM_011541011.2 | 1693 | Missense Mutation | AAG,GAG | K,E 420 | XP_011539313.1 | |
XM_011541012.1 | 1693 | UTR 3 | XP_011539314.1 | |||
XM_011541013.2 | 1693 | Intron | XP_011539315.1 | |||
XM_011541014.2 | 1693 | Missense Mutation | AAG,GAG | K,E 285 | XP_011539316.1 | |
XM_017000673.1 | 1693 | Missense Mutation | AAG,GAG | K,E 285 | XP_016856162.1 | |
XM_017000674.1 | 1693 | Missense Mutation | AAG,GAG | K,E 285 | XP_016856163.1 |