Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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 |
---|---|---|
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 |
DES - desmin | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SPEG - SPEG complex locus | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173476.1 | 349 | Intron | NP_001166947.1 | |||
NM_005876.4 | 349 | Missense Mutation | CAG,CAT | Q,H 71 | NP_005867.3 | |
XM_005246237.2 | 349 | Intron | XP_005246294.1 | |||
XM_005246239.2 | 349 | Intron | XP_005246296.1 | |||
XM_005246240.2 | 349 | Intron | XP_005246297.1 | |||
XM_005246241.1 | 349 | Intron | XP_005246298.1 | |||
XM_005246242.4 | 349 | Intron | XP_005246299.1 | |||
XM_006712189.3 | 349 | Intron | XP_006712252.1 | |||
XM_006712193.3 | 349 | Intron | XP_006712256.1 | |||
XM_011510479.2 | 349 | Missense Mutation | CAG,CAT | Q,H 71 | XP_011508781.1 | |
XM_011510483.2 | 349 | Intron | XP_011508785.2 | |||
XM_017003157.1 | 349 | Intron | XP_016858646.1 | |||
XM_017003158.1 | 349 | Intron | XP_016858647.1 | |||
XM_017003159.1 | 349 | Intron | XP_016858648.1 | |||
XM_017003160.1 | 349 | Intron | XP_016858649.1 | |||
XM_017003161.1 | 349 | Intron | XP_016858650.1 | |||
XM_017003162.1 | 349 | Intron | XP_016858651.1 |