Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGATGCACAGTTGACCACGGATAT[C/T]TATAATATTGAAGTCTTTTATCTAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191329 | ||||||||||||||||||||
Literature Links: |
PDZD9 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 |
PDZD9 - PDZ domain containing 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173806.3 | 406 | Missense Mutation | AAA,AGA | K,R 106 | NP_776167.2 | |
XM_006721029.3 | 406 | Missense Mutation | AAA,AGA | K,R 166 | XP_006721092.1 | |
XM_011545785.2 | 406 | Missense Mutation | AAA,AGA | K,R 166 | XP_011544087.1 | |
XM_017023109.1 | 406 | Missense Mutation | AAA,AGA | K,R 106 | XP_016878598.1 | |
XM_017023110.1 | 406 | Missense Mutation | AAA,AGA | K,R 104 | XP_016878599.1 |
UQCRC2 - ubiquinol-cytochrome c reductase core protein II | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003366.3 | 406 | Intron | NP_003357.2 |