Product Details

SNP ID

rs12701220

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:983092 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGGGCTGCCCTGCAAACTGCTCG[C/T]TCCACATTCTCGGGGTGGTGGGGTG

Phenotype

MIM: 610429 MIM: 615967

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C7orf50 PubMed Links

Additional Information

For this assay, SNP(s) [rs111904718] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

C7orf50

Gene Name

chromosome 7 open reading frame 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134395.1		Intron			NP_001127867.1
NM_001134396.1		Intron			NP_001127868.1
NM_001318252.1		Intron			NP_001305181.1
NM_032350.5		Intron			NP_115726.1
XM_006715793.2		Intron			XP_006715856.1
XM_011515580.2		Intron			XP_011513882.1
XM_011515581.2		Intron			XP_011513883.1
XM_011515582.2		Intron			XP_011513884.1
XM_011515583.2		Intron			XP_011513885.1
XM_011515584.2		Intron			XP_011513886.1
XM_017012719.1		Intron			XP_016868208.1
XM_017012720.1		Intron			XP_016868209.1
XM_017012721.1		Intron			XP_016868210.1
XM_017012722.1		Intron			XP_016868211.1

Gene

COX19

Gene Name

COX19, cytochrome c oxidase assembly factor

There are no transcripts associated with this gene.

Gene

CYP2W1

Gene Name

cytochrome P450 family 2 subfamily W member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017781.2		Intron			NP_060251.2
XM_011515440.2		Intron			XP_011513742.1
XM_011515441.2		Intron			XP_011513743.1

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