Product Details

SNP ID
rs144940381
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:206012372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGTTAATGGTGAAGGTGACATCC[G/A]GCATGACGTTAAGGTTGGCACACTC
Phenotype
MIM: 116890
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
CTSE PubMed Links

Gene Details

Gene
CTSE
Gene Name
cathepsin E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317331.1 943 Silent Mutation AGG,CGG R199R NP_001304260.1
NM_001910.3 943 Missense Mutation NP_001901.1
NM_148964.2 943 Silent Mutation AGG,CGG R274R NP_683865.1
XM_011509244.1 943 Missense Mutation XP_011507546.1
XM_011509245.1 943 Missense Mutation CGG,GGG R279G XP_011507547.1
Gene
RAB7B
Gene Name
RAB7B, member RAS oncogene family
There are no transcripts associated with this gene.

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