Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 609377 MIM: 610859 MIM: 607484 | ||||||||||||||||||||
Literature Links: |
ACD 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 |
ACD - adrenocortical dysplasia homolog | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001082486.1 | 1911 | Missense Mutation | ACG,ATG | T,M 525 | NP_001075955.1 | |
NM_001082487.1 | 1911 | Missense Mutation | ACG,ATG | T,M 509 | NP_001075956.1 | |
NM_022914.2 | 1911 | Missense Mutation | ACG,ATG | T,M 522 | NP_075065.2 | |
XM_005256115.3 | 1911 | Missense Mutation | ACG,ATG | T,M 496 | XP_005256172.1 |
C16orf86 - chromosome 16 open reading frame 86 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
CARMIL2 - capping protein regulator and myosin 1 linker 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013838.1 | 1911 | Intron | NP_001013860.1 | |||
NM_001317026.1 | 1911 | Intron | NP_001303955.1 | |||
XM_011522874.1 | 1911 | Intron | XP_011521176.1 | |||
XM_011522875.2 | 1911 | Intron | XP_011521177.2 | |||
XM_017022953.1 | 1911 | Intron | XP_016878442.1 |
ENKD1 - enkurin domain containing 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
PARD6A - par-6 family cell polarity regulator alpha | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |