Product Details

SNP ID
rs62077244
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81941057 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAAGGTGTACACCACCACCAGCC[A/G]GTCAAAGGGGCAGCCCAGGCCCCCT
Phenotype
MIM: 179035
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MYADML2 PubMed Links

Gene Details

Gene
MYADML2
Gene Name
myeloid associated differentiation marker like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145113.2 1040 Missense Mutation CGG,TGG R229W NP_001138585.2
Gene
PYCR1
Gene Name
pyrroline-5-carboxylate reductase 1
There are no transcripts associated with this gene.

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