Product Details

SNP ID

rs7353635

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10639505 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGTGCCCGCGGTCTGCTATACG[A/G]TGTACTCCATTCGGTTTAAGCTCTG

Phenotype

MIM: 601920

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

JAG1 PubMed Links

Gene Details

Gene

JAG1

Gene Name

jagged 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000214.2	4166	Missense Mutation	ACC,ATC	T1217I	NP_000205.1
XM_017027707.1	4166	Missense Mutation	ACC,ATC	T1058I	XP_016883196.1

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