Product Details

SNP ID
rs143820101
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:14090468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCTCCACAGGCAGATGTTGCTA[C/T]TGGACTGACAAGTGGAACCTACTCC
Phenotype
MIM: 608113
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SGCZ PubMed Links

Gene Details

Gene
SGCZ
Gene Name
sarcoglycan zeta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322879.1 1574 Missense Mutation AAT,AGT N271S NP_001309808.1
NM_001322880.1 1574 Missense Mutation AAT,AGT N264S NP_001309809.1
NM_001322881.1 1574 Missense Mutation AAT,AGT N190S NP_001309810.1
NM_139167.3 1574 Missense Mutation AAT,AGT N305S NP_631906.2

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