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TGGGGGTTCACTCCCTTGGACGTTT[C/T]TAAGAGGGACATGTCACTCCCCTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 125660 MIM: 615950 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
DES 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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DES - desmin | ||||||
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There are no transcripts associated with this gene. |
SPEG - SPEG complex locus | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173476.1 | Intron | NP_001166947.1 | ||||
NM_005876.4 | Intron | NP_005867.3 | ||||
XM_005246237.2 | Intron | XP_005246294.1 | ||||
XM_005246239.2 | Intron | XP_005246296.1 | ||||
XM_005246240.2 | Intron | XP_005246297.1 | ||||
XM_005246241.1 | Intron | XP_005246298.1 | ||||
XM_005246242.4 | Intron | XP_005246299.1 | ||||
XM_006712189.3 | Intron | XP_006712252.1 | ||||
XM_006712193.3 | Intron | XP_006712256.1 | ||||
XM_011510479.2 | Intron | XP_011508781.1 | ||||
XM_011510483.2 | Intron | XP_011508785.2 | ||||
XM_017003157.1 | Intron | XP_016858646.1 | ||||
XM_017003158.1 | Intron | XP_016858647.1 | ||||
XM_017003159.1 | Intron | XP_016858648.1 | ||||
XM_017003160.1 | Intron | XP_016858649.1 | ||||
XM_017003161.1 | Intron | XP_016858650.1 | ||||
XM_017003162.1 | Intron | XP_016858651.1 |