Product Details

SNP ID
rs200645609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:23330387 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCAGTTGGTTTTACATCTTTAT[C/T]AGACTTTCCCCTCACAGCATAGTCA
Phenotype
MIM: 604490 MIM: 608896
Polymorphism
C/T, Transition 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 13573 Missense Mutation NP_001264984.1
NM_014363.5 13573 Missense Mutation NP_055178.3
XM_005266338.2 13573 Missense Mutation XP_005266395.1
XM_011535039.2 13573 Missense Mutation XP_011533341.1
XM_017020539.1 13573 Missense Mutation XP_016876028.1
Gene
SGCG
Gene Name
sarcoglycan gamma
There are no transcripts associated with this gene.

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