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GATTCCTGATGGTTAGTCTGCAAAG[A/T]TGTAATAGTTCACATGGATCTTTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 602105 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASB17 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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ASB17 - ankyrin repeat and SOCS box containing 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080868.2 | 914 | Missense Mutation | CAA,CAT | Q,H 258 | NP_543144.1 | |
XM_006710345.3 | 914 | Missense Mutation | CAA,CAT | Q,H 210 | XP_006710408.1 | |
XM_006710346.3 | 914 | Missense Mutation | CAA,CAT | Q,H 180 | XP_006710409.1 |
MSH4 - mutS homolog 4 | ||||||
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There are no transcripts associated with this gene. |