Product Details

SNP ID
rs112975292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41432135 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCACCACTCCCCCACCCTGACG[C/T]TGAGTGAAGACAAATGGAAGCCAGA
Phenotype
MIM: 615357 MIM: 608348
Polymorphism
C/T, Transition 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_001167867.1 665 UTR 3 NP_001161339.1
NM_001167868.1 665 UTR 3 NP_001161340.1
NM_001167869.1 665 UTR 3 NP_001161341.1
NM_001167870.1 665 UTR 3 NP_001161342.1
NM_001167871.1 665 UTR 3 NP_001161343.1
NM_001320838.1 665 UTR 3 NP_001307767.1
NM_001320839.1 665 Intron NP_001307768.1
NM_001320840.1 665 UTR 3 NP_001307769.1
NM_001320841.1 665 UTR 3 NP_001307770.1
NM_001320844.1 665 Intron NP_001307773.1
NM_018035.2 665 UTR 3 NP_060505.2
XM_011527065.2 665 UTR 3 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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