Product Details

SNP ID

hCV57467137

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:1020296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCGCGCTGGAGCGGCGCGAGGAG[A/G]AGGCGAACGTGGTGCTCACCGGGAC

Phenotype

MIM: 103320 MIM: 147571

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AGRN PubMed Links

Gene Details

Gene

AGRN

Gene Name

agrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001305275.1	174	Missense Mutation	AAG,GAG	K42E	NP_001292204.1
NM_198576.3	174	Missense Mutation	AAG,GAG	K42E	NP_940978.2

Gene

ISG15

Gene Name

ISG15 ubiquitin-like modifier

There are no transcripts associated with this gene.

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