Product Details

SNP ID

rs118004943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:14086376 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATACAGAGATACCATGTTTGCAA[C/T]GAAATAATTTATTAGGAGTTTTATT

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	5666	UTR 3			NP_001309808.1
NM_001322880.1	5666	UTR 3			NP_001309809.1
NM_001322881.1	5666	UTR 3			NP_001309810.1
NM_139167.3	5666	UTR 3			NP_631906.2

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