Product Details

SNP ID

rs140565519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23764861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGGAAGCGTATGGGCACTCGG[C/T]GAGGCCGCCATGAGCAAAGCCCCAC

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	1182	Nonsense Mutation	CGA,TGA	R132*	NP_872326.2
XM_011529907.2	1182	Nonsense Mutation	CGA,TGA	R202*	XP_011528209.1
XM_011529908.2	1182	Nonsense Mutation	CGA,TGA	R137*	XP_011528210.2
XM_011529912.2	1182	Nonsense Mutation	CGA,TGA	R149*	XP_011528214.1
XM_017028602.1	1182	Nonsense Mutation	CGA,TGA	R230*	XP_016884091.1
XM_017028603.1	1182	Nonsense Mutation	CGA,TGA	R223*	XP_016884092.1
XM_017028604.1	1182	Nonsense Mutation	CGA,TGA	R210*	XP_016884093.1
XM_017028605.1	1182	Nonsense Mutation	CGA,TGA	R207*	XP_016884094.1
XM_017028606.1	1182	Nonsense Mutation	CGA,TGA	R230*	XP_016884095.1
XM_017028607.1	1182	Nonsense Mutation	CGA,TGA	R230*	XP_016884096.1
XM_017028608.1	1182	Nonsense Mutation	CGA,TGA	R230*	XP_016884097.1
XM_017028609.1	1182	Nonsense Mutation	CGA,TGA	R167*	XP_016884098.1
XM_017028610.1	1182	Nonsense Mutation	CGA,TGA	R160*	XP_016884099.1
XM_017028611.1	1182	Silent Mutation	GGC,GGT	G203G	XP_016884100.1
XM_017028612.1	1182	Nonsense Mutation	CGA,TGA	R132*	XP_016884101.1
XM_017028613.1	1182	Intron			XP_016884102.1
XM_017028614.1	1182	Intron			XP_016884103.1
XM_017028615.1	1182	Silent Mutation	GGC,GGT	G133G	XP_016884104.1
XM_017028616.1	1182	Intron			XP_016884105.1
XM_017028617.1	1182	Intron			XP_016884106.1
XM_017028618.1	1182	Intron			XP_016884107.1

Gene

CHCHD10

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301339.1	1182	Intron			NP_001288268.1
NM_213720.2	1182	Intron			NP_998885.1

Gene

MMP11

Gene Name

matrix metallopeptidase 11

There are no transcripts associated with this gene.

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