Product Details

SNP ID

rs184062483

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:79237382 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGACCTGCGCGCCGTGCACCAGCA[C/G]CTGTGCTCGGTGAACTCGCAGTTGG

Phenotype

MIM: 604279

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

JMY PubMed Links

Gene Details

Gene

JMY

Gene Name

junction mediating and regulatory protein, p53 cofactor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152405.4	1281	Missense Mutation	CAC,CAG	H244Q	NP_689618.4
XM_005248430.2	1281	Missense Mutation	CAC,CAG	H244Q	XP_005248487.1
XM_011543155.2	1281	Missense Mutation	CAC,CAG	H244Q	XP_011541457.1

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