Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCCTCTTGAATGCAGGGAGCCGAA[C/T]GACTTCCTCGTAGGAAACAACATCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 300126 MIM: 305360 | ||||||||||||||||||||
Literature Links: |
DKC1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
DKC1 - dyskerin pseudouridine synthase 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MPP1 - membrane palmitoylated protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166460.1 | 926 | Missense Mutation | ATT,GTT | I,V 258 | NP_001159932.1 | |
NM_001166461.1 | 926 | Missense Mutation | ATT,GTT | I,V 255 | NP_001159933.1 | |
NM_001166462.1 | 926 | Missense Mutation | ATT,GTT | I,V 245 | NP_001159934.1 | |
NM_002436.3 | 926 | Missense Mutation | ATT,GTT | I,V 275 | NP_002427.1 | |
XM_011531167.1 | 926 | Intron | XP_011529469.1 | |||
XM_011531169.1 | 926 | Missense Mutation | ATT,GTT | I,V 149 | XP_011529471.1 |
SNORA56 - small nucleolar RNA, H/ACA box 56 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |