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TTCTCCAGCACTGCTCAACTCCTCG[C/G]TTGGGGCACCAGTGTCCAATTCCAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 610393 | ||||||||||||||||||||
Literature Links: |
GON4L 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 |
GON4L - gon-4 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282856.1 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | NP_001269785.1 | |
NM_001282858.1 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | NP_001269787.1 | |
NM_001282860.1 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | NP_001269789.1 | |
NM_001282861.1 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | NP_001269790.1 | |
NM_032292.5 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | NP_115668.4 | |
XM_005245284.3 | 4224 | Missense Mutation | ACC,AGC | T,S 1190 | XP_005245341.1 | |
XM_005245286.3 | 4224 | Missense Mutation | ACC,AGC | T,S 558 | XP_005245343.1 | |
XM_006711393.3 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | XP_006711456.1 | |
XM_006711394.3 | 4224 | Missense Mutation | ACC,AGC | T,S 1362 | XP_006711457.1 | |
XM_011509658.2 | 4224 | Missense Mutation | ACC,AGC | T,S 1333 | XP_011507960.1 | |
XM_011509659.2 | 4224 | Missense Mutation | ACC,AGC | T,S 1190 | XP_011507961.1 |