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GCACAAGAATTGATGGGATAAAAAA[C/G]AACCAGTAAAACTTTAGAGTTGGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605358 MIM: 152790 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTF2A1L PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GTF2A1L - general transcription factor IIA subunit 1 like | ||||||
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There are no transcripts associated with this gene. |
LHCGR - luteinizing hormone/choriogonadotropin receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000233.3 | 1624 | Missense Mutation | CTT,GTT | L,V 610 | NP_000224.2 | |
XM_005264309.3 | 1624 | Missense Mutation | CTT,GTT | L,V 291 | XP_005264366.1 | |
XM_006712015.3 | 1624 | Missense Mutation | CTT,GTT | L,V 300 | XP_006712078.1 | |
XM_011532828.1 | 1624 | Missense Mutation | CTT,GTT | L,V 585 | XP_011531130.1 | |
XM_011532831.1 | 1624 | Missense Mutation | CTT,GTT | L,V 398 | XP_011531133.1 | |
XM_011532834.2 | 1624 | Missense Mutation | CTT,GTT | L,V 291 | XP_011531136.1 | |
XM_017004089.1 | 1624 | Missense Mutation | CTT,GTT | L,V 525 | XP_016859578.1 | |
XM_017004090.1 | 1624 | Missense Mutation | CTT,GTT | L,V 398 | XP_016859579.1 |
STON1-GTF2A1L - STON1-GTF2A1L readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198593.1 | 1624 | Intron | NP_001185522.1 | |||
NM_001198594.1 | 1624 | Intron | NP_001185523.1 | |||
NM_172311.2 | 1624 | Intron | NP_758515.1 |