Product Details

SNP ID
rs11555139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:99878225 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGTGTCATAGTTCAGGAACACA[A/G]GTCAGTGACAAACTTCTAGGTAATT
Phenotype
MIM: 124090 MIM: 607817
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COX6C PubMed Links

Gene Details

Gene
COX6C
Gene Name
cytochrome c oxidase subunit 6C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004374.3 691 UTR 3 NP_004365.1
XM_017013020.1 691 Intron XP_016868509.1
Gene
VPS13B
Gene Name
vacuolar protein sorting 13 homolog B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015243.2 691 Intron NP_056058.2
NM_017890.4 691 Intron NP_060360.3
NM_152564.4 691 Intron NP_689777.3
NM_181661.2 691 Intron NP_858047.2
XM_005250800.3 691 Intron XP_005250857.1
XM_005250801.4 691 Intron XP_005250858.1
XM_006716510.3 691 Intron XP_006716573.1
XM_011516848.2 691 Intron XP_011515150.1
XM_011516849.2 691 Intron XP_011515151.1
XM_011516850.2 691 Intron XP_011515152.1
XM_011516851.2 691 Intron XP_011515153.1
XM_011516852.2 691 Intron XP_011515154.1
XM_011516853.2 691 Intron XP_011515155.1
XM_011516854.2 691 Intron XP_011515156.1
XM_011516859.2 691 Intron XP_011515161.1
XM_011516861.1 691 Intron XP_011515163.1
XM_011516865.1 691 Intron XP_011515167.1
XM_011516866.2 691 Intron XP_011515168.1
XM_017013109.1 691 Intron XP_016868598.1
XM_017013110.1 691 Intron XP_016868599.1
XM_017013111.1 691 Intron XP_016868600.1
XM_017013112.1 691 Intron XP_016868601.1

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