Product Details

SNP ID

rs200704446

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23764802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGGGCCTTCCAGAGGAACTGC[A/G]CAGGCTGTCAGGCCTCTCCTCTGTG

Phenotype

MIM: 615903 MIM: 185261

Polymorphism

A/G, 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	1123	Missense Mutation	CAC,CGC	H112R	NP_872326.2
XM_011529907.2	1123	Missense Mutation	CAC,CGC	H182R	XP_011528209.1
XM_011529908.2	1123	Missense Mutation	CAC,CGC	H117R	XP_011528210.2
XM_011529912.2	1123	Missense Mutation	CAC,CGC	H129R	XP_011528214.1
XM_017028602.1	1123	Missense Mutation	CAC,CGC	H210R	XP_016884091.1
XM_017028603.1	1123	Missense Mutation	CAC,CGC	H203R	XP_016884092.1
XM_017028604.1	1123	Missense Mutation	CAC,CGC	H190R	XP_016884093.1
XM_017028605.1	1123	Missense Mutation	CAC,CGC	H187R	XP_016884094.1
XM_017028606.1	1123	Missense Mutation	CAC,CGC	H210R	XP_016884095.1
XM_017028607.1	1123	Missense Mutation	CAC,CGC	H210R	XP_016884096.1
XM_017028608.1	1123	Missense Mutation	CAC,CGC	H210R	XP_016884097.1
XM_017028609.1	1123	Missense Mutation	CAC,CGC	H147R	XP_016884098.1
XM_017028610.1	1123	Missense Mutation	CAC,CGC	H140R	XP_016884099.1
XM_017028611.1	1123	Missense Mutation	ACA,GCA	T184A	XP_016884100.1
XM_017028612.1	1123	Missense Mutation	CAC,CGC	H112R	XP_016884101.1
XM_017028613.1	1123	Intron			XP_016884102.1
XM_017028614.1	1123	Intron			XP_016884103.1
XM_017028615.1	1123	Missense Mutation	ACA,GCA	T114A	XP_016884104.1
XM_017028616.1	1123	Intron			XP_016884105.1
XM_017028617.1	1123	Intron			XP_016884106.1
XM_017028618.1	1123	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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