Search Thermo Fisher Scientific
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GCGAGAGTGAGGACATCCATGCCCA[C/G]CAGCAGGCCCACTGTGGCATACAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603540 | ||||||||||||||||||||
Literature Links: |
GABBR1 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 |
GABBR1 - gamma-aminobutyric acid type B receptor subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319053.1 | 2053 | Missense Mutation | CTG,GTG | L,V 541 | NP_001305982.1 | |
NM_001470.3 | 2053 | Missense Mutation | CTG,GTG | L,V 718 | NP_001461.1 | |
NM_021903.2 | 2053 | Missense Mutation | CTG,GTG | L,V 601 | NP_068703.1 | |
NM_021904.3 | 2053 | Missense Mutation | CTG,GTG | L,V 656 | NP_068704.2 | |
XM_005248982.2 | 2053 | Missense Mutation | CTG,GTG | L,V 723 | XP_005249039.1 | |
XM_006715047.3 | 2053 | Missense Mutation | CTG,GTG | L,V 661 | XP_006715110.1 | |
XM_011514453.2 | 2053 | Missense Mutation | CTG,GTG | L,V 654 | XP_011512755.1 | |
XM_011514455.1 | 2053 | Intron | XP_011512757.1 | |||
XM_017010676.1 | 2053 | Missense Mutation | CTG,GTG | L,V 535 | XP_016866165.1 |