Product Details

SNP ID: rs199759649
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:35432666 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCCACCACACTGACCACCCCAGAG[C/T]GCAGTGTGTCGTTCTTGAAGCCAGG
Phenotype
Polymorphism: C/T, Transition 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	2350	Missense Mutation	CAC,CGC	H618R	NP_001001991.1
NM_001282675.1	2350	Missense Mutation	CAC,CGC	H578R	NP_001269604.1
NM_001282676.1	2350	Missense Mutation	CAC,CGC	H507R	NP_001269605.1
NM_015430.3	2350	Missense Mutation	CAC,CGC	H635R	NP_056245.2