Product Details

SNP ID

rs148041041

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:1014111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCGGCGTGCACGCCTTCCAGCAGC[A/G]TCTGGCTGTCCACCCGAGCGGTGTG

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	238	Missense Mutation	CAT,CGT	H44R	NP_005092.1

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