Product Details

SNP ID

rs6504949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:54972772 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTCAGCAGAGACCCTAGAAAATTT[G/T]TGTGTATAAACAAGTGTGCATATGT

Phenotype

MIM: 603648 MIM: 610415

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COX11 PubMed Links

Gene Details

Gene

COX11

Gene Name

COX11, cytochrome c oxidase copper chaperone

There are no transcripts associated with this gene.

Gene

STXBP4

Gene Name

syntaxin binding protein 4

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

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