Product Details

SNP ID

rs12937360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:54968937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGCTTGCCATCACTTGGGGTTG[C/T]GCCTGTGATCTTTATTTAAACTCCA

Phenotype

MIM: 603648 MIM: 610415 MIM: 604701

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COX11 PubMed Links

Gene Details

Gene

COX11

Gene Name

COX11, cytochrome c oxidase copper chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162861.2	2088	Intron			NP_001156333.1
NM_001162862.2	2088	Intron			NP_001156334.1
NM_001321518.1	2088	Intron			NP_001308447.1
NM_004375.4	2088	Intron			NP_004366.1
XM_011524342.2	2088	UTR 5			XP_011522644.1
XM_017024192.1	2088	UTR 5			XP_016879681.1
XM_017024193.1	2088	Intron			XP_016879682.1
XM_017024194.1	2088	Intron			XP_016879683.1
XM_017024195.1	2088	Intron			XP_016879684.1
XM_017024196.1	2088	Intron			XP_016879685.1

Gene

STXBP4

Gene Name

syntaxin binding protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178509.5	2088	Intron			NP_848604.3
XM_005257187.4	2088	Intron			XP_005257244.1
XM_006721797.3	2088	Intron			XP_006721860.1
XM_006721798.3	2088	Intron			XP_006721861.1
XM_017024410.1	2088	Intron			XP_016879899.1
XM_017024411.1	2088	Intron			XP_016879900.1
XM_017024412.1	2088	Intron			XP_016879901.1
XM_017024413.1	2088	Intron			XP_016879902.1
XM_017024414.1	2088	Intron			XP_016879903.1
XM_017024415.1	2088	Intron			XP_016879904.1

Gene

TOM1L1

Gene Name

target of myb1 like 1 membrane trafficking protein

There are no transcripts associated with this gene.

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