Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTGCACCAGCCTTACCCACCTCGA[C/G]GCTTCGAGGAACGTCTTCTCCCGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 609377 MIM: 610859 MIM: 604167 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACD 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
|
ACD - adrenocortical dysplasia homolog | ||||||
---|---|---|---|---|---|---|
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 | 1458 | Missense Mutation | GAC,GAG | D,E 436 | NP_001013860.1 | |
NM_001317026.1 | 1458 | Missense Mutation | GAC,GAG | D,E 400 | NP_001303955.1 | |
XM_011522874.1 | 1458 | Missense Mutation | GAC,GAG | D,E 405 | XP_011521176.1 | |
XM_011522875.2 | 1458 | Missense Mutation | GAC,GAG | D,E 405 | XP_011521177.2 | |
XM_017022953.1 | 1458 | Missense Mutation | GAC,GAG | D,E 405 | XP_016878442.1 |
CTCF - CCCTC-binding factor | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |