Product Details

SNP ID
rs201439638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:23330433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCAGCTGCAATCAAAGCTAACTT[C/G]GTAGAAAGGTAACATTTAAAGCACA
Phenotype
MIM: 604490 MIM: 608896
Polymorphism
C/G, 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 13527 Silent Mutation ACC,ACG T4334T NP_001264984.1
NM_014363.5 13527 Silent Mutation ACC,ACG T4481T NP_055178.3
XM_005266338.2 13527 Silent Mutation ACC,ACG T4490T XP_005266395.1
XM_011535039.2 13527 Silent Mutation ACC,ACG T4487T XP_011533341.1
XM_017020539.1 13527 Silent Mutation ACC,ACG T4478T XP_016876028.1
Gene
SGCG
Gene Name
sarcoglycan gamma
There are no transcripts associated with this gene.

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