Product Details

SNP ID

rs147550502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23764644 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCTCTCCACATGTCACAGAGGGA[G/T]AGGACATGGCCTCCACCCGCTATGA

Phenotype

MIM: 615903 MIM: 185261

Polymorphism

G/T, Transversion 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	1348	Nonsense Mutation	GAG,TAG	E86*	NP_872326.2
XM_011529907.2	1348	Nonsense Mutation	GAG,TAG	E156*	XP_011528209.1
XM_011529908.2	1348	Nonsense Mutation	GAG,TAG	E91*	XP_011528210.2
XM_011529912.2	1348	Nonsense Mutation	GAG,TAG	E103*	XP_011528214.1
XM_017028602.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884091.1
XM_017028603.1	1348	Missense Mutation	GAG,GAT	E150D	XP_016884092.1
XM_017028604.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884093.1
XM_017028605.1	1348	Nonsense Mutation	GAG,TAG	E161*	XP_016884094.1
XM_017028606.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884095.1
XM_017028607.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884096.1
XM_017028608.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884097.1
XM_017028609.1	1348	Missense Mutation	GAG,GAT	E94D	XP_016884098.1
XM_017028610.1	1348	Missense Mutation	GAG,GAT	E87D	XP_016884099.1
XM_017028611.1	1348	Missense Mutation	GAG,GAT	E157D	XP_016884100.1
XM_017028612.1	1348	Nonsense Mutation	GAG,TAG	E86*	XP_016884101.1
XM_017028613.1	1348	Nonsense Mutation	GAG,TAG	E161*	XP_016884102.1
XM_017028614.1	1348	Nonsense Mutation	GAG,TAG	E156*	XP_016884103.1
XM_017028615.1	1348	Missense Mutation	GAG,GAT	E87D	XP_016884104.1
XM_017028616.1	1348	Nonsense Mutation	GAG,TAG	E91*	XP_016884105.1
XM_017028617.1	1348	Missense Mutation	GAG,GAT	E87D	XP_016884106.1
XM_017028618.1	1348	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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