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CGGAAAGATGAGGCATCCTGCCATA[C/T]CTCGTGCTCAAAGGAGTCATCAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 600582 MIM: 611292 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASPH PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
ASPH - aspartate beta-hydroxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164750.1 | 2231 | Missense Mutation | ATA,GTA | I,V 698 | NP_001158222.1 | |
NM_001164751.1 | 2231 | Intron | NP_001158223.1 | |||
NM_001164752.1 | 2231 | Intron | NP_001158224.1 | |||
NM_001164753.1 | 2231 | Intron | NP_001158225.1 | |||
NM_001164754.1 | 2231 | Intron | NP_001158226.1 | |||
NM_001164755.1 | 2231 | Intron | NP_001158227.1 | |||
NM_001164756.1 | 2231 | Intron | NP_001158228.1 | |||
NM_004318.3 | 2231 | Missense Mutation | ATA,GTA | I,V 727 | NP_004309.2 | |
NM_020164.4 | 2231 | Intron | NP_064549.1 | |||
NM_032466.3 | 2231 | Intron | NP_115855.1 | |||
NM_032467.3 | 2231 | Intron | NP_115856.1 | |||
NM_032468.4 | 2231 | Intron | NP_115857.1 | |||
XM_005251235.2 | 2231 | Missense Mutation | ATA,GTA | I,V 742 | XP_005251292.1 | |
XM_005251236.2 | 2231 | Missense Mutation | ATA,GTA | I,V 741 | XP_005251293.1 | |
XM_005251238.2 | 2231 | Missense Mutation | ATA,GTA | I,V 727 | XP_005251295.1 | |
XM_005251239.2 | 2231 | Missense Mutation | ATA,GTA | I,V 723 | XP_005251296.1 | |
XM_005251240.1 | 2231 | Missense Mutation | ATA,GTA | I,V 713 | XP_005251297.1 | |
XM_005251242.2 | 2231 | Missense Mutation | ATA,GTA | I,V 708 | XP_005251299.1 | |
XM_005251243.2 | 2231 | Missense Mutation | ATA,GTA | I,V 699 | XP_005251300.1 | |
XM_005251244.1 | 2231 | Missense Mutation | ATA,GTA | I,V 693 | XP_005251301.1 | |
XM_005251246.2 | 2231 | Missense Mutation | ATA,GTA | I,V 684 | XP_005251303.1 | |
XM_005251247.2 | 2231 | Missense Mutation | ATA,GTA | I,V 680 | XP_005251304.1 | |
XM_005251248.1 | 2231 | Missense Mutation | ATA,GTA | I,V 679 | XP_005251305.1 | |
XM_005251250.2 | 2231 | Missense Mutation | ATA,GTA | I,V 665 | XP_005251307.1 | |
XM_017013419.1 | 2231 | Missense Mutation | ATA,GTA | I,V 769 | XP_016868908.1 | |
XM_017013420.1 | 2231 | Missense Mutation | ATA,GTA | I,V 768 | XP_016868909.1 | |
XM_017013421.1 | 2231 | Missense Mutation | ATA,GTA | I,V 755 | XP_016868910.1 | |
XM_017013422.1 | 2231 | Missense Mutation | ATA,GTA | I,V 754 | XP_016868911.1 | |
XM_017013423.1 | 2231 | Missense Mutation | ATA,GTA | I,V 754 | XP_016868912.1 | |
XM_017013424.1 | 2231 | Missense Mutation | ATA,GTA | I,V 753 | XP_016868913.1 | |
XM_017013425.1 | 2231 | Missense Mutation | ATA,GTA | I,V 750 | XP_016868914.1 | |
XM_017013426.1 | 2231 | Missense Mutation | ATA,GTA | I,V 740 | XP_016868915.1 | |
XM_017013427.1 | 2231 | Missense Mutation | ATA,GTA | I,V 739 | XP_016868916.1 | |
XM_017013428.1 | 2231 | Missense Mutation | ATA,GTA | I,V 735 | XP_016868917.1 | |
XM_017013429.1 | 2231 | Missense Mutation | ATA,GTA | I,V 726 | XP_016868918.1 | |
XM_017013430.1 | 2231 | Missense Mutation | ATA,GTA | I,V 726 | XP_016868919.1 | |
XM_017013431.1 | 2231 | Missense Mutation | ATA,GTA | I,V 725 | XP_016868920.1 | |
XM_017013432.1 | 2231 | Missense Mutation | ATA,GTA | I,V 725 | XP_016868921.1 | |
XM_017013433.1 | 2231 | Missense Mutation | ATA,GTA | I,V 724 | XP_016868922.1 | |
XM_017013434.1 | 2231 | Missense Mutation | ATA,GTA | I,V 722 | XP_016868923.1 | |
XM_017013435.1 | 2231 | Missense Mutation | ATA,GTA | I,V 720 | XP_016868924.1 | |
XM_017013436.1 | 2231 | Missense Mutation | ATA,GTA | I,V 713 | XP_016868925.1 | |
XM_017013437.1 | 2231 | Missense Mutation | ATA,GTA | I,V 711 | XP_016868926.1 | |
XM_017013438.1 | 2231 | Missense Mutation | ATA,GTA | I,V 698 | XP_016868927.1 | |
XM_017013439.1 | 2231 | Missense Mutation | ATA,GTA | I,V 697 | XP_016868928.1 | |
XM_017013440.1 | 2231 | Missense Mutation | ATA,GTA | I,V 697 | XP_016868929.1 | |
XM_017013441.1 | 2231 | Missense Mutation | ATA,GTA | I,V 683 | XP_016868930.1 | |
XM_017013442.1 | 2231 | Missense Mutation | ATA,GTA | I,V 679 | XP_016868931.1 | |
XM_017013443.1 | 2231 | Missense Mutation | ATA,GTA | I,V 664 | XP_016868932.1 | |
XM_017013444.1 | 2231 | Missense Mutation | ATA,GTA | I,V 655 | XP_016868933.1 | |
XM_017013445.1 | 2231 | Intron | XP_016868934.1 | |||
XM_017013446.1 | 2231 | Intron | XP_016868935.1 | |||
XM_017013447.1 | 2231 | Intron | XP_016868936.1 |
CLVS1 - clavesin 1 | ||||||
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There are no transcripts associated with this gene. |