Product Details

SNP ID

rs200974261

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:1022318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCCCCTCATCTGTGACAACCAG[A/G]TGTCCACTGGGGACACCAGGATCTT

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	390	Missense Mutation	ATG,GTG	M107V	NP_001292204.1
NM_198576.3	390	Missense Mutation	ATG,GTG	M107V	NP_940978.2
XM_005244749.3	390	Missense Mutation	ATG,GTG	M107V	XP_005244806.1
XM_011541429.2	390	Missense Mutation	ATG,GTG	M107V	XP_011539731.1

Gene

ISG15

Gene Name

ISG15 ubiquitin-like modifier

There are no transcripts associated with this gene.

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