Product Details
- SNP ID
-
rs200113481
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:190082 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGACCGGGACCGGGACAATTTCCGT[C/T]GCTCTCGGGAGGTAGATCTTGACCG
- 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 |
2130 |
Missense Mutation |
CAA,CGA |
Q287R |
NP_001307155.1 |
NM_018032.4 |
2130 |
Missense Mutation |
CAA,CGA |
Q287R |
NP_060502.1 |
NM_201412.2 |
2130 |
Missense Mutation |
CAA,CGA |
Q287R |
NP_958815.1 |
XM_005255427.3 |
2130 |
Missense Mutation |
CAA,CGA |
Q234R |
XP_005255484.1 |
XM_005255429.3 |
2130 |
Missense Mutation |
CAA,CGA |
Q201R |
XP_005255486.1 |
XM_011522561.2 |
2130 |
Missense Mutation |
CAA,CGA |
Q254R |
XP_011520863.1 |
XM_017023437.1 |
2130 |
Missense Mutation |
CAA,CGA |
Q234R |
XP_016878926.1 |
XM_017023438.1 |
2130 |
Missense Mutation |
CAA,CGA |
Q201R |
XP_016878927.1 |
XM_017023439.1 |
2130 |
Missense Mutation |
CAA,CGA |
Q234R |
XP_016878928.1 |
XM_017023440.1 |
2130 |
Missense Mutation |
CAA,CGA |
Q201R |
XP_016878929.1 |
View Full Product Details