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CAACAGCGTGGCCTGCAGCTTTGCC[A/G]TGGGAGCCGGCTTCCTGGCCTTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 131235 MIM: 608373 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KDELR1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KDELR1 - KDEL endoplasmic reticulum protein retention receptor 1 | ||||||
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There are no transcripts associated with this gene. |
SYNGR4 - synaptogyrin 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012451.3 | 693 | Missense Mutation | ATG,GTG | M,V 70 | NP_036583.2 | |
XM_005258693.2 | 693 | Missense Mutation | ATG,GTG | M,V 70 | XP_005258750.1 | |
XM_005258694.2 | 693 | Missense Mutation | ATG,GTG | M,V 70 | XP_005258751.1 | |
XM_011526686.2 | 693 | Missense Mutation | ATG,GTG | M,V 21 | XP_011524988.1 | |
XM_017026541.1 | 693 | Missense Mutation | ATG,GTG | M,V 21 | XP_016882030.1 |
TMEM143 - transmembrane protein 143 | ||||||
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There are no transcripts associated with this gene. |