Product Details
- SNP ID
-
rs201073054
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:5687310 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AACTTTGTGAGCTACGTGCAACTGA[C/T]GTCGCGGGCGCTGCCCAGCCTGACG
- Phenotype
-
MIM: 616658
MIM: 605490
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C19orf70
PubMed Links
Gene Details
- Gene
- C19orf70
- Gene Name
- chromosome 19 open reading frame 70
There are no transcripts associated with this gene.
- Gene
- HSD11B1L
- Gene Name
- hydroxysteroid 11-beta dehydrogenase 1 like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001267868.1 |
958 |
Missense Mutation |
ACG,ATG |
T193M |
NP_001254797.1 |
| NM_001267869.1 |
958 |
Missense Mutation |
ACG,ATG |
T12M |
NP_001254798.1 |
| NM_001267870.1 |
958 |
Silent Mutation |
GAC,GAT |
D34D |
NP_001254799.1 |
| NM_001267871.1 |
958 |
Missense Mutation |
ACG,ATG |
T65M |
NP_001254800.1 |
| NM_198533.2 |
958 |
Missense Mutation |
ACG,ATG |
T146M |
NP_940935.1 |
| NM_198704.2 |
958 |
Missense Mutation |
ACG,ATG |
T12M |
NP_941993.1 |
| NM_198705.2 |
958 |
Missense Mutation |
ACG,ATG |
T65M |
NP_941994.1 |
| NM_198706.2 |
958 |
Missense Mutation |
ACG,ATG |
T146M |
NP_941995.1 |
| NM_198707.2 |
958 |
Missense Mutation |
ACG,ATG |
T59M |
NP_941996.1 |
| NM_198708.2 |
958 |
Missense Mutation |
ACG,ATG |
T12M |
NP_941997.1 |
- Gene
- LOC107985320
- Gene Name
- uncharacterized LOC107985320
There are no transcripts associated with this gene.
- Gene
- LONP1
- Gene Name
- lon peptidase 1, mitochondrial
There are no transcripts associated with this gene.
- Gene
- RPL36
- Gene Name
- ribosomal protein L36
There are no transcripts associated with this gene.
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