Product Details

SNP ID

rs141469034

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23764847 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTGGGCCACAACTGGAGGAAGC[A/G]TATGGGCACTCGGCGAGGCCGCCAT

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	1168	Missense Mutation	CAT,CGT	H127R	NP_872326.2
XM_011529907.2	1168	Missense Mutation	CAT,CGT	H197R	XP_011528209.1
XM_011529908.2	1168	Missense Mutation	CAT,CGT	H132R	XP_011528210.2
XM_011529912.2	1168	Missense Mutation	CAT,CGT	H144R	XP_011528214.1
XM_017028602.1	1168	Missense Mutation	CAT,CGT	H225R	XP_016884091.1
XM_017028603.1	1168	Missense Mutation	CAT,CGT	H218R	XP_016884092.1
XM_017028604.1	1168	Missense Mutation	CAT,CGT	H205R	XP_016884093.1
XM_017028605.1	1168	Missense Mutation	CAT,CGT	H202R	XP_016884094.1
XM_017028606.1	1168	Missense Mutation	CAT,CGT	H225R	XP_016884095.1
XM_017028607.1	1168	Missense Mutation	CAT,CGT	H225R	XP_016884096.1
XM_017028608.1	1168	Missense Mutation	CAT,CGT	H225R	XP_016884097.1
XM_017028609.1	1168	Missense Mutation	CAT,CGT	H162R	XP_016884098.1
XM_017028610.1	1168	Missense Mutation	CAT,CGT	H155R	XP_016884099.1
XM_017028611.1	1168	Missense Mutation	ATA,GTA	I199V	XP_016884100.1
XM_017028612.1	1168	Missense Mutation	CAT,CGT	H127R	XP_016884101.1
XM_017028613.1	1168	Intron			XP_016884102.1
XM_017028614.1	1168	Intron			XP_016884103.1
XM_017028615.1	1168	Missense Mutation	ATA,GTA	I129V	XP_016884104.1
XM_017028616.1	1168	Intron			XP_016884105.1
XM_017028617.1	1168	Intron			XP_016884106.1
XM_017028618.1	1168	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	1168	Intron			NP_001288268.1
NM_213720.2	1168	Intron			NP_998885.1

Gene

MMP11

Gene Name

matrix metallopeptidase 11

There are no transcripts associated with this gene.

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