Product Details

SNP ID
rs147776968
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:1014290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACGAGGTACGGCTGACGCAGACC[A/G]TGGCCCACCTGAAGCAGCAAGTGAG
Phenotype
MIM: 103320 MIM: 147571
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AGRN PubMed Links

Gene Details

Gene
AGRN
Gene Name
agrin
There are no transcripts associated with this gene.

Gene
ISG15
Gene Name
ISG15 ubiquitin-like modifier
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005101.3 417 Missense Mutation ATG,GTG M104V NP_005092.1

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