Product Details

SNP ID

rs72676983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:94926432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAAAGCCACTTAAAAAAAAAAAA[A/C]ACACACGCAATTATTAAAGTTCAAA

Phenotype

MIM: 612392 MIM: 606185

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NDUFAF6 PubMed Links

Gene Details

Gene

NDUFAF6

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152416.3	5006	Intron			NP_689629.2
XM_005250789.2	5006	Intron			XP_005250846.1
XM_005250790.2	5006	Intron			XP_005250847.1
XM_005250791.2	5006	Intron			XP_005250848.1
XM_005250792.2	5006	Intron			XP_005250849.1
XM_005250793.2	5006	Intron			XP_005250850.1
XM_011516833.2	5006	Intron			XP_011515135.1
XM_011516834.2	5006	Intron			XP_011515136.1
XM_011516835.2	5006	Intron			XP_011515137.1
XM_011516836.2	5006	Intron			XP_011515138.1
XM_011516837.2	5006	Intron			XP_011515139.1
XM_011516838.2	5006	Intron			XP_011515140.1
XM_011516839.2	5006	Intron			XP_011515141.1
XM_011516840.2	5006	Intron			XP_011515142.1
XM_011516841.2	5006	Intron			XP_011515143.1
XM_011516842.2	5006	Intron			XP_011515144.1
XM_017013027.1	5006	Intron			XP_016868516.1
XM_017013028.1	5006	Intron			XP_016868517.1
XM_017013029.1	5006	Intron			XP_016868518.1
XM_017013030.1	5006	Intron			XP_016868519.1
XM_017013031.1	5006	Intron			XP_016868520.1
XM_017013032.1	5006	Intron			XP_016868521.1
XM_017013033.1	5006	Intron			XP_016868522.1
XM_017013034.1	5006	Intron			XP_016868523.1
XM_017013035.1	5006	Intron			XP_016868524.1
XM_017013036.1	5006	Intron			XP_016868525.1
XM_017013037.1	5006	Intron			XP_016868526.1
XM_017013038.1	5006	Intron			XP_016868527.1
XM_017013039.1	5006	Intron			XP_016868528.1

Gene

TP53INP1

Gene Name

tumor protein p53 inducible nuclear protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135733.1	5006	UTR 3			NP_001129205.1
NM_033285.3	5006	UTR 3			NP_150601.1
XM_011517386.2	5006	UTR 3			XP_011515688.1

View Full Product Details