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- SNP ID:
- rs771456886
- Gene
-
GTF2A1LLHCGRSTON1-GTF2A1L - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 48687397 - 48687397 on Build GRCh38
- Polymorphism:
- A/T, Transversion substitution
- Context Sequence [VIC/FAM]:
AAATTACGAAAATGAAAAAAAAGAT[A/T]TGCAAAATACCTCCTCAGTTTTTTA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605358
MIM: 152790
|
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Literature Links: |
GTF2A1L PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| GTF2A1L - general transcription factor IIA subunit 1 like | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LHCGR - luteinizing hormone/choriogonadotropin receptor | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000233.3 | 2196 | UTR 3 | NP_000224.2 | |||
| XM_005264309.3 | 2196 | UTR 3 | XP_005264366.1 | |||
| XM_006712015.3 | 2196 | UTR 3 | XP_006712078.1 | |||
| XM_011532828.1 | 2196 | UTR 3 | XP_011531130.1 | |||
| XM_011532831.1 | 2196 | UTR 3 | XP_011531133.1 | |||
| XM_011532834.2 | 2196 | UTR 3 | XP_011531136.1 | |||
| XM_017004089.1 | 2196 | UTR 3 | XP_016859578.1 | |||
| XM_017004090.1 | 2196 | UTR 3 | XP_016859579.1 | |||
| STON1-GTF2A1L - STON1-GTF2A1L readthrough | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001198593.1 | 2196 | Intron | NP_001185522.1 | |||
| NM_001198594.1 | 2196 | Intron | NP_001185523.1 | |||
| NM_172311.2 | 2196 | Intron | NP_758515.1 | |||
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