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ACACGGAGCAGCAGGAGGGAGTCGC[C/G]ACTCCCGTTCCTATTCACCCTGGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602005 | ||||||||||||||||||||
Literature Links: |
LOC105369536 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 |
LOC105369536 - uncharacterized LOC105369536 | ||||||
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There are no transcripts associated with this gene. |
SORL1 - sortilin related receptor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003105.5 | 161 | Missense Mutation | CCA,CGA | P,R 11 | NP_003096.1 | |
XM_011542963.2 | 161 | Missense Mutation | CCA,CGA | P,R 11 | XP_011541265.1 | |
XM_011542965.2 | 161 | Intron | XP_011541267.1 | |||
XM_011542967.2 | 161 | Intron | XP_011541269.1 | |||
XM_017018169.1 | 161 | Intron | XP_016873658.1 | |||
XM_017018170.1 | 161 | Intron | XP_016873659.1 | |||
XM_017018171.1 | 161 | Missense Mutation | CCA,CGA | P,R 11 | XP_016873660.1 | |
XM_017018172.1 | 161 | Intron | XP_016873661.1 |