Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCTGGTCTAAAGACAGACTTTCT[A/G]AAGTTTCTATATCTTCAATGCCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614235 MIM: 193001 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDZD8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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
|
|||||
AMR
|
PDZD8 - PDZ domain containing 8 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173791.4 | 3401 | Missense Mutation | TCA,TTA | S,L 1104 | NP_776152.1 | |
XM_005269518.3 | 3401 | Missense Mutation | TCA,TTA | S,L 1063 | XP_005269575.1 | |
XM_011539265.1 | 3401 | Intron | XP_011537567.1 | |||
XM_011539266.2 | 3401 | Intron | XP_011537568.1 |
SLC18A2 - solute carrier family 18 member A2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |