Product Details

SNP ID
rs201945147
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:23330633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGGGGCATTTTTCTTTGTTCT[G/T]TTGCTGTCTTTCAGATTTATGGCTC
Phenotype
MIM: 604490 MIM: 608896
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SACS PubMed Links

Gene Details

Gene
SACS
Gene Name
sacsin molecular chaperone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278055.1 13327 Missense Mutation AAG,CAG K4268Q NP_001264984.1
NM_014363.5 13327 Missense Mutation AAG,CAG K4415Q NP_055178.3
XM_005266338.2 13327 Missense Mutation AAG,CAG K4424Q XP_005266395.1
XM_011535039.2 13327 Missense Mutation AAG,CAG K4421Q XP_011533341.1
XM_017020539.1 13327 Missense Mutation AAG,CAG K4412Q XP_016876028.1
Gene
SGCG
Gene Name
sarcoglycan gamma
There are no transcripts associated with this gene.

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