Product Details

SNP ID
rs199744157
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:23330409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCAGACTTTCCCCTCACAGCATA[C/G]TCAGCTGCAATCAAAGCTAACTTGG
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 13551 Missense Mutation GAC,GAG D4342E NP_001264984.1
NM_014363.5 13551 Missense Mutation GAC,GAG D4489E NP_055178.3
XM_005266338.2 13551 Missense Mutation GAC,GAG D4498E XP_005266395.1
XM_011535039.2 13551 Missense Mutation GAC,GAG D4495E XP_011533341.1
XM_017020539.1 13551 Missense Mutation GAC,GAG D4486E XP_016876028.1
Gene
SGCG
Gene Name
sarcoglycan gamma
There are no transcripts associated with this gene.

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