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CTCAACAGTGGAGACAAGGCAGGAG[A/G]CTGCATCGTCAATAGGGAAAGAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612486 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCHS2 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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DCHS2 - dachsous cadherin-related 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142552.1 | 5944 | Intron | NP_001136024.1 | |||
NM_017639.3 | 5944 | Missense Mutation | CCT,TCT | P,S 2884 | NP_060109.2 | |
XM_011532045.1 | 5944 | Missense Mutation | CCT,TCT | P,S 3339 | XP_011530347.1 | |
XM_011532046.2 | 5944 | Missense Mutation | CCT,TCT | P,S 2562 | XP_011530348.1 | |
XM_011532049.2 | 5944 | Missense Mutation | CCT,TCT | P,S 1674 | XP_011530351.1 | |
XM_017008320.1 | 5944 | Intron | XP_016863809.1 |