Product Details
- SNP ID
-
rs146490197
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:189998 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTCGCACTTCGGTCCCGGGAAGCC[C/T]GACGATGTCCCCGGCTGTGGCTCCG
- Phenotype
-
MIM: 142240
MIM: 607782
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HBQ1
PubMed Links
Gene Details
- Gene
- HBQ1
- Gene Name
- hemoglobin subunit theta 1
There are no transcripts associated with this gene.
- Gene
- LUC7L
- Gene Name
- LUC7 like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320226.1 |
2214 |
Missense Mutation |
CAG,CGG |
Q315R |
NP_001307155.1 |
| NM_018032.4 |
2214 |
Missense Mutation |
CAG,CGG |
Q315R |
NP_060502.1 |
| NM_201412.2 |
2214 |
Missense Mutation |
CAG,CGG |
Q315R |
NP_958815.1 |
| XM_005255427.3 |
2214 |
Missense Mutation |
CAG,CGG |
Q262R |
XP_005255484.1 |
| XM_005255429.3 |
2214 |
Missense Mutation |
CAG,CGG |
Q229R |
XP_005255486.1 |
| XM_011522561.2 |
2214 |
Missense Mutation |
CAG,CGG |
Q282R |
XP_011520863.1 |
| XM_017023437.1 |
2214 |
Missense Mutation |
CAG,CGG |
Q262R |
XP_016878926.1 |
| XM_017023438.1 |
2214 |
Missense Mutation |
CAG,CGG |
Q229R |
XP_016878927.1 |
| XM_017023439.1 |
2214 |
Missense Mutation |
CAG,CGG |
Q262R |
XP_016878928.1 |
| XM_017023440.1 |
2214 |
Missense Mutation |
CAG,CGG |
Q229R |
XP_016878929.1 |
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