Product Details

SNP ID

rs12143301

Assay Type

Functionally tested

NCBI dbSNP Submissions

44

Location

Chr.1:169854649 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAAGCAGGAATAGGCTTCTGCTCC[C/G]CTGAGGTAACAGGTTTTGTAGCAGT

Phenotype

MIM: 608192

Polymorphism

C/G, 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	1961	Intron			NP_001306976.1
NM_001320048.1	1961	Intron			NP_001306977.1
NM_001320050.1	1961	Intron			NP_001306979.1
NM_001320051.1	1961	Intron			NP_001306980.1
NM_018186.3	1961	Intron			NP_060656.2
XM_005245317.4	1961	Intron			XP_005245374.1
XM_011509735.2	1961	Intron			XP_011508037.1
XM_017001722.1	1961	Intron			XP_016857211.1
XM_017001723.1	1961	Intron			XP_016857212.1
XM_017001724.1	1961	Intron			XP_016857213.1
XM_017001725.1	1961	Intron			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	1961	Missense Mutation	GCG,GGG	A543G	NP_065156.5
NM_181093.3	1961	Missense Mutation	GCG,GGG	A597G	NP_851607.2
XM_006711465.1	1961	Missense Mutation	GCG,GGG	A597G	XP_006711528.1
XM_011509801.1	1961	Missense Mutation	GCG,GGG	A597G	XP_011508103.1
XM_011509802.1	1961	Missense Mutation	GCG,GGG	A455G	XP_011508104.1
XM_011509803.1	1961	Missense Mutation	GCG,GGG	A455G	XP_011508105.1
XM_017001862.1	1961	Missense Mutation	GCG,GGG	A543G	XP_016857351.1
XM_017001863.1	1961	Missense Mutation	GCG,GGG	A543G	XP_016857352.1
XM_017001864.1	1961	Missense Mutation	GCG,GGG	A401G	XP_016857353.1
XM_017001865.1	1961	Missense Mutation	GCG,GGG	A401G	XP_016857354.1

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