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GGGGAGATACTGGAGTCCCAGGCTA[C/T]GGCGCACGGCATAGCGAGCGAGTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615053 MIM: 610681 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASB8 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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ASB8 - ankyrin repeat and SOCS box containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319296.1 | 1003 | Missense Mutation | CAT,CGT | H,R 260 | NP_001306225.1 | |
NM_001319297.1 | 1003 | Missense Mutation | CAT,CGT | H,R 260 | NP_001306226.1 | |
NM_001319298.1 | 1003 | Missense Mutation | CAT,CGT | H,R 199 | NP_001306227.1 | |
NM_001319299.1 | 1003 | Missense Mutation | CAT,CGT | H,R 199 | NP_001306228.1 | |
NM_001319300.1 | 1003 | UTR 3 | NP_001306229.1 | |||
NM_001319301.1 | 1003 | UTR 3 | NP_001306230.1 | |||
NM_024095.4 | 1003 | Missense Mutation | CAT,CGT | H,R 260 | NP_077000.1 |
PFKM - phosphofructokinase, muscle | ||||||
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There are no transcripts associated with this gene. |