Product Details

SNP ID
rs114632300
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:61856323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAGCACATTTTCACTGACACTA[A/G]GAGGAAATACAAAATCTTCAAATGG
Phenotype
MIM: 608879
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VPS13C PubMed Links

Gene Details

Gene
VPS13C
Gene Name
vacuolar protein sorting 13 homolog C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018088.2 11130 Intron NP_001018098.1
NM_017684.4 11130 Missense Mutation CCT,CTT P3637L NP_060154.3
NM_018080.3 11130 Intron NP_060550.2
NM_020821.2 11130 Missense Mutation CCT,CTT P3680L NP_065872.1
XM_011521713.2 11130 Intron XP_011520015.1
XM_011521714.2 11130 Intron XP_011520016.1

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