Product Details

SNP ID

rs142672566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:14090425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGAACAAAAGGCTATTCTGGTGT[C/G]AGGAGAAATCAGTCACTTCAGCTCC

Phenotype

MIM: 608113

Polymorphism

C/G, Transversion 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	1617	UTR 3			NP_001309808.1
NM_001322880.1	1617	UTR 3			NP_001309809.1
NM_001322881.1	1617	UTR 3			NP_001309810.1
NM_139167.3	1617	UTR 3			NP_631906.2

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