Product Details

SNP ID
rs201315284
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:58428431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAAATAAACGTCTTCCTGTTG[A/G]AACGGGGACTAGTTTGAATGGAACA
Phenotype
MIM: 610178 MIM: 607384
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA0586 PubMed Links

Gene Details

Gene
KIAA0586
Gene Name
KIAA0586
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001244189.1 413 Missense Mutation GAA,GGA E68G NP_001231118.1
NM_001244190.1 413 Missense Mutation GAA,GGA E41G NP_001231119.1
NM_001244191.1 413 Intron NP_001231120.1
NM_001244192.1 413 Intron NP_001231121.1
NM_001244193.1 413 Intron NP_001231122.1
Gene
TIMM9
Gene Name
translocase of inner mitochondrial membrane 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304485.1 413 Intron NP_001291414.1
NM_001304486.1 413 Intron NP_001291415.1
NM_001304487.1 413 Intron NP_001291416.1
NM_001304488.1 413 Intron NP_001291417.1
NM_001304489.1 413 Intron NP_001291418.1
NM_001304490.1 413 Intron NP_001291419.1
NM_001304491.1 413 Intron NP_001291420.1
NM_012460.3 413 Intron NP_036592.1

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