Product Details

SNP ID
rs193167829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:35432727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCAGGACATTCCAGCCAGCCA[C/G]AGTGATGTGGGACTCCTGGAAGGAA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PAMR1 PubMed Links

Gene Details

Gene
PAMR1
Gene Name
peptidase domain containing associated with muscle regeneration 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001991.2 2289 Missense Mutation CTG,GTG L598V NP_001001991.1
NM_001282675.1 2289 Missense Mutation CTG,GTG L558V NP_001269604.1
NM_001282676.1 2289 Missense Mutation CTG,GTG L487V NP_001269605.1
NM_015430.3 2289 Missense Mutation CTG,GTG L615V NP_056245.2

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