Product Details

SNP ID

rs147519719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50560957 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCACAGAAGTAGCAGCCTGTACA[C/G]AGGCGGCGTCCCGCCCATGCTCCAG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C3orf18 PubMed Links

Gene Details

Gene

C3orf18

Gene Name

chromosome 3 open reading frame 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171740.2	937	Missense Mutation	TCT,TGT	S123C	NP_001165211.1
NM_001171741.2	937	Missense Mutation	TCT,TGT	S123C	NP_001165212.1
NM_001171743.2	937	Missense Mutation	TCT,TGT	S103C	NP_001165214.2
NM_016210.4	937	Missense Mutation	TCT,TGT	S123C	NP_057294.2
XM_011533781.2	937	Missense Mutation	TCT,TGT	S197C	XP_011532083.1
XM_011533782.2	937	Missense Mutation	TCT,TGT	S127C	XP_011532084.1
XM_011533783.2	937	Missense Mutation	TCT,TGT	S127C	XP_011532085.1
XM_011533784.2	937	Missense Mutation	TCT,TGT	S127C	XP_011532086.1
XM_011533785.2	937	Missense Mutation	TCT,TGT	S127C	XP_011532087.1
XM_011533788.1	937	UTR 5			XP_011532090.1
XM_011533789.1	937	Intron			XP_011532091.1
XM_011533790.1	937	Missense Mutation	TCT,TGT	S103C	XP_011532092.1
XM_017006545.1	937	Intron			XP_016862034.1
XM_017006546.1	937	Intron			XP_016862035.1
XM_017006547.1	937	Missense Mutation	TCT,TGT	S103C	XP_016862036.1

Gene

HEMK1

Gene Name

HemK methyltransferase family member 1

There are no transcripts associated with this gene.

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