Product Details

SNP ID
rs143413450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41432239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGACAGGGCTAAAGGCTAGGCAG[C/G]GACAGGGCTGGCTGTGTCCCGAGGC
Phenotype
MIM: 615357 MIM: 608348
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATP5SL PubMed Links

Gene Details

Gene
ATP5SL
Gene Name
ATP5S like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167867.1 561 Missense Mutation CCT,GCT P262A NP_001161339.1
NM_001167868.1 561 UTR 3 NP_001161340.1
NM_001167869.1 561 UTR 3 NP_001161341.1
NM_001167870.1 561 UTR 3 NP_001161342.1
NM_001167871.1 561 Missense Mutation CCT,GCT P229A NP_001161343.1
NM_001320838.1 561 UTR 3 NP_001307767.1
NM_001320839.1 561 Intron NP_001307768.1
NM_001320840.1 561 Missense Mutation CCT,GCT P235A NP_001307769.1
NM_001320841.1 561 UTR 3 NP_001307770.1
NM_001320844.1 561 Intron NP_001307773.1
NM_018035.2 561 Missense Mutation CCT,GCT P256A NP_060505.2
XM_011527065.2 561 Missense Mutation CCT,GCT P243A XP_011525367.1
Gene
B3GNT8
Gene Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
There are no transcripts associated with this gene.

Gene
BCKDHA
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
There are no transcripts associated with this gene.

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