Product Details

SNP ID
rs144637709
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41433291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCACTGGAGGTGGTGGAGGCAGG[C/T]GAGGCCCCGTTCGGAGATGCGGGGG
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_001167867.1 535 Missense Mutation ACC,GCC T199A NP_001161339.1
NM_001167868.1 535 Intron NP_001161340.1
NM_001167869.1 535 Intron NP_001161341.1
NM_001167870.1 535 Intron NP_001161342.1
NM_001167871.1 535 Missense Mutation ACC,GCC T166A NP_001161343.1
NM_001320838.1 535 Intron NP_001307767.1
NM_001320839.1 535 Missense Mutation ACC,GCC T172A NP_001307768.1
NM_001320840.1 535 Missense Mutation ACC,GCC T172A NP_001307769.1
NM_001320841.1 535 Intron NP_001307770.1
NM_001320844.1 535 Missense Mutation ACC,GCC T166A NP_001307773.1
NM_018035.2 535 Missense Mutation ACC,GCC T193A NP_060505.2
XM_011527065.2 535 Missense Mutation ACC,GCC T180A 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.

Gene
ERICH4
Gene Name
glutamate rich 4
There are no transcripts associated with this gene.

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