Product Details

SNP ID

rs201860567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81941183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTGGCCACGTAGCGCCCGTAGC[A/G]GCTGTCATGGACCAGCGCCCCGAAG

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	914	Missense Mutation	CGC,TGC	R187C	NP_001138585.2

Gene

PYCR1

Gene Name

pyrroline-5-carboxylate reductase 1

There are no transcripts associated with this gene.

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