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AAGGCCATCCTTTTGCATGGAAGAA[C/T]ACCAGCGAGCTGAGCTGGAGGAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300227 | ||||||||||||||||||||
Literature Links: |
SCML1 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 |
SCML1 - sex comb on midleg-like 1 (Drosophila) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001037535.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 43 | NP_001032624.1 | |
NM_001037536.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 43 | NP_001032625.1 | |
NM_001037540.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 164 | NP_001032629.1 | |
NM_006746.5 | 3657 | Missense Mutation | CAC,TAC | H,Y 137 | NP_006737.2 | |
XM_005274578.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 165 | XP_005274635.1 | |
XM_005274579.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 136 | XP_005274636.1 | |
XM_006724508.3 | 3657 | Missense Mutation | CAC,TAC | H,Y 164 | XP_006724571.1 | |
XM_006724509.3 | 3657 | Missense Mutation | CAC,TAC | H,Y 136 | XP_006724572.1 | |
XM_011545564.2 | 3657 | Missense Mutation | CAC,TAC | H,Y 165 | XP_011543866.1 | |
XM_017029723.1 | 3657 | Missense Mutation | CAC,TAC | H,Y 137 | XP_016885212.1 |