Product Details

SNP ID
hCV89435142
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49683944 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCGCAGTGGTGACCATCATCAAG[C/G]GGAAGGTGGAGGAGGTGGAGCTCCC
Phenotype
MIM: 608846 MIM: 602950
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ADM5 PubMed Links

Gene Details

Gene
ADM5
Gene Name
adrenomedullin 5 (putative)
There are no transcripts associated with this gene.

Gene
CPT1C
Gene Name
carnitine palmitoyltransferase 1C
There are no transcripts associated with this gene.

Gene
MIR5088
Gene Name
microRNA 5088
There are no transcripts associated with this gene.

Gene
PRMT1
Gene Name
protein arginine methyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207042.2 559 Missense Mutation CGG,GGG R126G NP_001193971.1
NM_001536.5 559 Missense Mutation CGG,GGG R144G NP_001527.3
NM_198318.4 559 Missense Mutation CGG,GGG R126G NP_938074.2

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