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CTTCTCCCCGGCCAGCGTCGACAAC[C/T]AGCTCAATGCCCAGCTGGCAGCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616582 | ||||||||||||||||||||
Literature Links: |
LSR 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 |
LSR - lipolysis stimulated lipoprotein receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001260489.1 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | NP_001247418.1 | |
NM_001260490.1 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | NP_001247419.1 | |
NM_015925.6 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | NP_057009.3 | |
NM_205834.3 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | NP_991403.1 | |
NM_205835.3 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | NP_991404.1 | |
XM_005258980.1 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | XP_005259037.1 | |
XM_005258982.1 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | XP_005259039.1 | |
XM_011527026.1 | 665 | Nonsense Mutation | CAG,TAG | Q,* 148 | XP_011525328.1 |