Product Details
- SNP ID
-
rs137853230
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:144512033 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGGTGCTGCGCTCCTCATCCTGCT[G/A]CTCCAGGCAGGGCCCGCAGCTGGGG
- Phenotype
-
MIM: 138200
MIM: 609172
MIM: 603780
- Polymorphism
- G/A, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GPT
PubMed Links
Gene Details
- Gene
- GPT
- Gene Name
- glutamic--pyruvic transaminase
There are no transcripts associated with this gene.
- Gene
- LOC101928953
- Gene Name
- uncharacterized LOC101928953
There are no transcripts associated with this gene.
- Gene
- LRRC14
- Gene Name
- leucine rich repeat containing 14
There are no transcripts associated with this gene.
- Gene
- MFSD3
- Gene Name
- major facilitator superfamily domain containing 3
- Gene
- PPP1R16A
- Gene Name
- protein phosphatase 1 regulatory subunit 16A
There are no transcripts associated with this gene.
- Gene
- RECQL4
- Gene Name
- RecQ like helicase 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_004260.3 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1091* |
NP_004251.3 |
| XM_011517384.2 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1025* |
XP_011515686.1 |
| XM_017013991.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1146* |
XP_016869480.1 |
| XM_017013992.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1121* |
XP_016869481.1 |
| XM_017013993.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1116* |
XP_016869482.1 |
| XM_017013994.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1114* |
XP_016869483.1 |
| XM_017013995.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1091* |
XP_016869484.1 |
| XM_017013996.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1146* |
XP_016869485.1 |
| XM_017013997.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1080* |
XP_016869486.1 |
| XM_017013998.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1121* |
XP_016869487.1 |
| XM_017013999.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q1050* |
XP_016869488.1 |
| XM_017014000.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q767* |
XP_016869489.1 |
| XM_017014001.1 |
3115 |
Nonsense Mutation |
CAG,TAG |
Q737* |
XP_016869490.1 |
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