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CAGGCCCACCCGGGCGCCGGCTCAG[C/T]GGTAGTGCCGAAGGTAGATGAGCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
7 submissions
|
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Phenotype: |
MIM: 602859 MIM: 612836 | ||||||||||||||||||||
Literature Links: |
PEX10 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 |
PEX10 - peroxisomal biogenesis factor 10 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002617.3 | 1106 | Missense Mutation | CAC,CGC | H,R 326 | NP_002608.1 | |
NM_153818.1 | 1106 | Missense Mutation | CAC,CGC | H,R 346 | NP_722540.1 | |
XM_011541573.1 | 1106 | Missense Mutation | CAC,CGC | H,R 345 | XP_011539875.1 | |
XM_011541576.1 | 1106 | Intron | XP_011539878.1 |
PLCH2 - phospholipase C eta 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
RER1 - retention in endoplasmic reticulum sorting receptor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007033.4 | 1106 | Intron | NP_008964.3 | |||
XM_005244713.4 | 1106 | Intron | XP_005244770.2 | |||
XM_006710306.2 | 1106 | Intron | XP_006710369.1 | |||
XM_011540542.1 | 1106 | Intron | XP_011538844.1 | |||
XM_011540543.1 | 1106 | Intron | XP_011538845.1 | |||
XM_017000131.1 | 1106 | Intron | XP_016855620.1 | |||
XM_017000132.1 | 1106 | Intron | XP_016855621.1 | |||
XM_017000133.1 | 1106 | Intron | XP_016855622.1 | |||
XM_017000134.1 | 1106 | Intron | XP_016855623.1 | |||
XM_017000135.1 | 1106 | Intron | XP_016855624.1 |