Product Details

SNP ID
rs112443658
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219435005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAAAGCCCGGGGCACGCGAGGC[A/G]AGGATGCGGGCACGAGGGCACCCCC
Phenotype
MIM: 125660 MIM: 615950
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DES PubMed Links

Gene Details

Gene
DES
Gene Name
desmin
There are no transcripts associated with this gene.

Gene
SPEG
Gene Name
SPEG complex locus
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173476.1 164 Intron NP_001166947.1
NM_005876.4 164 Missense Mutation AAG,GAG K10E NP_005867.3
XM_005246237.2 164 Intron XP_005246294.1
XM_005246239.2 164 Intron XP_005246296.1
XM_005246240.2 164 Intron XP_005246297.1
XM_005246241.1 164 Intron XP_005246298.1
XM_005246242.4 164 Intron XP_005246299.1
XM_006712189.3 164 Intron XP_006712252.1
XM_006712193.3 164 Intron XP_006712256.1
XM_011510479.2 164 Missense Mutation AAG,GAG K10E XP_011508781.1
XM_011510483.2 164 Intron XP_011508785.2
XM_017003157.1 164 Intron XP_016858646.1
XM_017003158.1 164 Intron XP_016858647.1
XM_017003159.1 164 Intron XP_016858648.1
XM_017003160.1 164 Intron XP_016858649.1
XM_017003161.1 164 Intron XP_016858650.1
XM_017003162.1 164 Intron XP_016858651.1

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