Product Details

SNP ID

rs7844439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:99878567 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTTCCTTCTCAATTCTATGCCCA[A/C]CACCGCCCCCACCCCCCTGCCATTA

Phenotype

MIM: 124090 MIM: 607817

Polymorphism

A/C, Transversion 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		Intron			NP_004365.1
XM_017013020.1		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		Intron			NP_056058.2
NM_017890.4		Intron			NP_060360.3
NM_152564.4		Intron			NP_689777.3
NM_181661.2		Intron			NP_858047.2
XM_005250800.3		Intron			XP_005250857.1
XM_005250801.4		Intron			XP_005250858.1
XM_006716510.3		Intron			XP_006716573.1
XM_011516848.2		Intron			XP_011515150.1
XM_011516849.2		Intron			XP_011515151.1
XM_011516850.2		Intron			XP_011515152.1
XM_011516851.2		Intron			XP_011515153.1
XM_011516852.2		Intron			XP_011515154.1
XM_011516853.2		Intron			XP_011515155.1
XM_011516854.2		Intron			XP_011515156.1
XM_011516859.2		Intron			XP_011515161.1
XM_011516861.1		Intron			XP_011515163.1
XM_011516865.1		Intron			XP_011515167.1
XM_011516866.2		Intron			XP_011515168.1
XM_017013109.1		Intron			XP_016868598.1
XM_017013110.1		Intron			XP_016868599.1
XM_017013111.1		Intron			XP_016868600.1
XM_017013112.1		Intron			XP_016868601.1

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