Product Details

SNP ID: rs2289461
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.13:110713558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCACGCCCCCGCGAGGGCCGGCCT[C/G]GAGCCCGCAGCCCCCAGGGCCTGGG
Phenotype: MIM: 612800 MIM: 601566
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CARS2 PubMed Links

Gene Details

Gene: CARS2
Gene Name: cysteinyl-tRNA synthetase 2, mitochondrial (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024537.3	296	Intron			NP_078813.1
XM_006719953.2	296	Intron			XP_006720016.1
XM_011521116.1	296	Intron			XP_011519418.1
XM_011521117.2	296	Intron			XP_011519419.1
XM_011521118.2	296	Intron			XP_011519420.1
XM_017020741.1	296	Intron			XP_016876230.1
XM_017020742.1	296	Intron			XP_016876231.1

Gene: ING1
Gene Name: inhibitor of growth family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267728.1	296	Intron			NP_001254657.1
NM_005537.5	296	Intron			NP_005528.4
NM_198217.2	296	Intron			NP_937860.1
NM_198218.2	296	UTR 5			NP_937861.1
NM_198219.2	296	UTR 5			NP_937862.1

Gene: LOC105376684
Gene Name: translation initiation factor IF-2-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011521137.2	296	Missense Mutation	CAG,GAG	Q170E	XP_011519439.1

View Full Product Details