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AAGGCCTGGACGTTCAGCTCAAAGA[C/T]AGTTTGGAGAGCACGGACCACATGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606443 MIM: 609471 MIM: 186745 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CREB3 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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CREB3 - cAMP responsive element binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006368.4 | 2856 | Intron | NP_006359.3 |
GBA2 - glucosylceramidase beta 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020944.2 | 2856 | Missense Mutation | ATC,GTC | I,V 785 | NP_065995.1 | |
XM_005251526.4 | 2856 | Missense Mutation | ATC,GTC | I,V 769 | XP_005251583.1 | |
XM_006716809.3 | 2856 | Missense Mutation | ATC,GTC | I,V 791 | XP_006716872.1 | |
XM_011517973.2 | 2856 | Missense Mutation | ATC,GTC | I,V 785 | XP_011516275.1 | |
XM_017014937.1 | 2856 | Missense Mutation | ATC,GTC | I,V 763 | XP_016870426.1 | |
XM_017014938.1 | 2856 | Missense Mutation | ATC,GTC | I,V 791 | XP_016870427.1 | |
XM_017014939.1 | 2856 | Missense Mutation | ATC,GTC | I,V 763 | XP_016870428.1 | |
XM_017014940.1 | 2856 | Missense Mutation | ATC,GTC | I,V 712 | XP_016870429.1 | |
XM_017014941.1 | 2856 | Missense Mutation | ATC,GTC | I,V 712 | XP_016870430.1 | |
XM_017014942.1 | 2856 | Missense Mutation | ATC,GTC | I,V 640 | XP_016870431.1 | |
XM_017014943.1 | 2856 | Missense Mutation | ATC,GTC | I,V 634 | XP_016870432.1 | |
XM_017014944.1 | 2856 | Missense Mutation | ATC,GTC | I,V 606 | XP_016870433.1 | |
XM_017014945.1 | 2856 | Missense Mutation | ATC,GTC | I,V 600 | XP_016870434.1 | |
XM_017014946.1 | 2856 | Missense Mutation | ATC,GTC | I,V 498 | XP_016870435.1 |
MIR6853 - microRNA 6853 | ||||||
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There are no transcripts associated with this gene. |
TLN1 - talin 1 | ||||||
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There are no transcripts associated with this gene. |