Product Details

SNP ID

rs144744697

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:9890787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGCGACTTTCAGCACCGGGAGC[G/T]CGTCGCCATGCACTACCAGATGAGG

Phenotype

MIM: 616012

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

JAGN1 PubMed Links

Gene Details

Gene

JAGN1

Gene Name

jagunal homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032492.3	201	Missense Mutation	CGC,CTC	R22L	NP_115881.3

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