Product Details

SNP ID
rs200834463
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:58280441 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTATCTCTAGAGCTGTTTCCTAGT[C/T]GTGAATGCGTGATGGTCCTTCTTTG
Phenotype
MIM: 616070
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC113 PubMed Links

Gene Details

Gene
CCDC113
Gene Name
coiled-coil domain containing 113
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142302.1 1715 UTR 3 NP_001135774.1
NM_014157.3 1715 UTR 3 NP_054876.2
XM_011523038.2 1715 UTR 3 XP_011521340.1
XM_011523039.2 1715 UTR 3 XP_011521341.1
XM_011523040.2 1715 UTR 3 XP_011521342.1
XM_011523041.2 1715 UTR 3 XP_011521343.1
XM_011523042.2 1715 Intron XP_011521344.1
XM_017023176.1 1715 UTR 3 XP_016878665.1
XM_017023177.1 1715 UTR 3 XP_016878666.1
XM_017023178.1 1715 Intron XP_016878667.1
Gene
PRSS54
Gene Name
protease, serine 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080492.1 1715 Missense Mutation CAA,CGA Q324R NP_001073961.1
NM_001305173.1 1715 Missense Mutation CAA,CGA Q324R NP_001292102.1
NM_001305174.1 1715 Missense Mutation CAA,CGA Q225R NP_001292103.1

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