Product Details

SNP ID

rs145628774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23764672 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACATGGCCTCCACCCGCTATGAGT[C/T]CCTATTGGAGAACCTGGATGACCAT

Phenotype

MIM: 615903 MIM: 185261

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C22orf15 PubMed Links

Gene Details

Gene

C22orf15

Gene Name

chromosome 22 open reading frame 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182520.2	1376	Missense Mutation	TCC,TTC	S95F	NP_872326.2
XM_011529907.2	1376	Missense Mutation	TCC,TTC	S165F	XP_011528209.1
XM_011529908.2	1376	Missense Mutation	TCC,TTC	S100F	XP_011528210.2
XM_011529912.2	1376	Missense Mutation	TCC,TTC	S112F	XP_011528214.1
XM_017028602.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884091.1
XM_017028603.1	1376	Missense Mutation	CCC,TCC	P160S	XP_016884092.1
XM_017028604.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884093.1
XM_017028605.1	1376	Missense Mutation	TCC,TTC	S170F	XP_016884094.1
XM_017028606.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884095.1
XM_017028607.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884096.1
XM_017028608.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884097.1
XM_017028609.1	1376	Missense Mutation	CCC,TCC	P104S	XP_016884098.1
XM_017028610.1	1376	Missense Mutation	CCC,TCC	P97S	XP_016884099.1
XM_017028611.1	1376	Missense Mutation	CCC,TCC	P167S	XP_016884100.1
XM_017028612.1	1376	Missense Mutation	TCC,TTC	S95F	XP_016884101.1
XM_017028613.1	1376	Missense Mutation	TCC,TTC	S170F	XP_016884102.1
XM_017028614.1	1376	Missense Mutation	TCC,TTC	S165F	XP_016884103.1
XM_017028615.1	1376	Missense Mutation	CCC,TCC	P97S	XP_016884104.1
XM_017028616.1	1376	Missense Mutation	TCC,TTC	S100F	XP_016884105.1
XM_017028617.1	1376	Missense Mutation	CCC,TCC	P97S	XP_016884106.1
XM_017028618.1	1376	Intron			XP_016884107.1

Gene

CHCHD10

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 10

There are no transcripts associated with this gene.

Gene

MMP11

Gene Name

matrix metallopeptidase 11

There are no transcripts associated with this gene.

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