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TGTGTATGGGGTGTTGCTTACAGAT[G/T]GCCAGTAGGAAAGGAAGAAGAAGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605760 | ||||||||||||||||||||
Literature Links: |
ASB3 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 |
ASB3 - ankyrin repeat and SOCS box containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201965.1 | 295 | Intron | NP_001188894.1 | |||
NM_016115.4 | 295 | Intron | NP_057199.1 | |||
NM_145863.2 | 295 | Intron | NP_665862.1 |
CHAC2 - ChaC cation transport regulator homolog 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008708.2 | 295 | Missense Mutation | TGG,TTG | W,L 67 | NP_001008708.1 |
GPR75-ASB3 - GPR75-ASB3 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164165.1 | 295 | Intron | NP_001157637.1 |