Product Details

SNP ID
rs201819747
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:201983040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTATGGCCAGGCCCTGTGCGTGT[C/T]CTTCCCGCAGCCCTGCCGCGCCGCC
Phenotype
MIM: 602675
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RNPEP PubMed Links

Gene Details

Gene
RNPEP
Gene Name
arginyl aminopeptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319182.1 403 Intron NP_001306111.1
NM_001319183.1 403 UTR 5 NP_001306112.1
NM_001319184.1 403 UTR 5 NP_001306113.1
NM_020216.3 403 Missense Mutation TCC,TTC S125F NP_064601.3
XM_005245421.1 403 Intron XP_005245478.1
XM_017002022.1 403 Intron XP_016857511.1

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