Product Details

SNP ID: rs143073366
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:13615725 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTTCCTCCCAGGGATAAAACGCTC[A/C]TGAAGGAGAAGAGGAAGCGACGCGA
Phenotype: MIM: 611533 MIM: 603854 MIM: 604483
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: NOL7 PubMed Links

Gene Details

Gene: NOL7
Gene Name: nucleolar protein 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317724.1	312	Missense Mutation	ATG,CTG	M94L	NP_001304653.1
NM_016167.4	312	Missense Mutation	ATG,CTG	M94L	NP_057251.2

Gene: RANBP9
Gene Name: RAN binding protein 9

There are no transcripts associated with this gene.

Gene: SIRT5
Gene Name: sirtuin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193267.2	312	Intron			NP_001180196.1
NM_001242827.1	312	Intron			NP_001229756.1
NM_012241.4	312	Intron			NP_036373.1
NM_031244.3	312	Intron			NP_112534.1
XM_005248968.4	312	Intron			XP_005249025.1
XM_011514444.2	312	Intron			XP_011512746.1
XM_017010620.1	312	Intron			XP_016866109.1
XM_017010621.1	312	Intron			XP_016866110.1
XM_017010622.1	312	Intron			XP_016866111.1
XM_017010623.1	312	Intron			XP_016866112.1
XM_017010624.1	312	Intron			XP_016866113.1
XM_017010625.1	312	Intron			XP_016866114.1

View Full Product Details