Product Details

SNP ID
rs186621475
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:169853716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTTTAACTCACATCTATTGTCA[A/C]CAGTTATTATCTTCCCAGTTCAGCT
Phenotype
MIM: 608192
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C1orf112 PubMed Links

Gene Details

Gene
C1orf112
Gene Name
chromosome 1 open reading frame 112
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320047.1 3435 Intron NP_001306976.1
NM_001320048.1 3435 Intron NP_001306977.1
NM_001320050.1 3435 Intron NP_001306979.1
NM_001320051.1 3435 Intron NP_001306980.1
NM_018186.3 3435 Intron NP_060656.2
XM_005245317.4 3435 UTR 3 XP_005245374.1
XM_011509735.2 3435 UTR 3 XP_011508037.1
XM_017001722.1 3435 Intron XP_016857211.1
XM_017001723.1 3435 Intron XP_016857212.1
XM_017001724.1 3435 UTR 3 XP_016857213.1
XM_017001725.1 3435 UTR 3 XP_016857214.1
Gene
SCYL3
Gene Name
SCY1 like pseudokinase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020423.6 3435 Missense Mutation NP_065156.5
NM_181093.3 3435 Missense Mutation NP_851607.2
XM_006711465.1 3435 Missense Mutation XP_006711528.1
XM_011509801.1 3435 Missense Mutation XP_011508103.1
XM_011509802.1 3435 Missense Mutation XP_011508104.1
XM_011509803.1 3435 Missense Mutation XP_011508105.1
XM_017001862.1 3435 Missense Mutation XP_016857351.1
XM_017001863.1 3435 Missense Mutation XP_016857352.1
XM_017001864.1 3435 Missense Mutation XP_016857353.1
XM_017001865.1 3435 Nonsense Mutation XP_016857354.1

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