Product Details
- SNP ID
-
rs201587564
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:41432401 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGAGGTCCGAGATGTCCAGCCTGC[A/G]GAGGTTCCTGAAAAGGGGTGAGAAG
- Phenotype
-
MIM: 615357
MIM: 608348
- Polymorphism
- A/G, 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 |
399 |
Missense Mutation |
CGC,TGC |
R208C |
NP_001161339.1 |
| NM_001167868.1 |
399 |
Silent Mutation |
TCC,TCT |
S153S |
NP_001161340.1 |
| NM_001167869.1 |
399 |
Silent Mutation |
TCC,TCT |
S147S |
NP_001161341.1 |
| NM_001167870.1 |
399 |
Silent Mutation |
TCC,TCT |
S120S |
NP_001161342.1 |
| NM_001167871.1 |
399 |
Missense Mutation |
CGC,TGC |
R175C |
NP_001161343.1 |
| NM_001320838.1 |
399 |
Missense Mutation |
CCG,CTG |
P135L |
NP_001307767.1 |
| NM_001320839.1 |
399 |
Intron |
|
|
NP_001307768.1 |
| NM_001320840.1 |
399 |
Missense Mutation |
CGC,TGC |
R181C |
NP_001307769.1 |
| NM_001320841.1 |
399 |
Silent Mutation |
TCC,TCT |
S126S |
NP_001307770.1 |
| NM_001320844.1 |
399 |
Intron |
|
|
NP_001307773.1 |
| NM_018035.2 |
399 |
Missense Mutation |
CGC,TGC |
R202C |
NP_060505.2 |
| XM_011527065.2 |
399 |
Missense Mutation |
CGC,TGC |
R189C |
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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