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ATTGGCGAGTGTCTCTCTTCAGTCA[A/G]TAGGCTTGATCATCATCTGAACTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 603874 | ||||||||||||||||||||
Literature Links: |
ANGPTL1 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 |
ANGPTL1 - angiopoietin like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004673.3 | 1945 | Missense Mutation | ACT,ATT | T,I 490 | NP_004664.1 | |
XM_005245577.2 | 1945 | Missense Mutation | ACT,ATT | T,I 490 | XP_005245634.1 |
RALGPS2 - Ral GEF with PH domain and SH3 binding motif 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286247.1 | 1945 | Intron | NP_001273176.1 | |||
NM_152663.4 | 1945 | Intron | NP_689876.2 | |||
XM_006711410.3 | 1945 | Intron | XP_006711473.1 | |||
XM_006711411.3 | 1945 | Intron | XP_006711474.1 | |||
XM_011509688.1 | 1945 | Intron | XP_011507990.1 | |||
XM_017001591.1 | 1945 | Intron | XP_016857080.1 |