Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGAAGAGCGAATATCCTGACTTA[C/T]TCGAGTGGTTTTGTGTGAAGACACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607144 MIM: 607171 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALG12 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
|
ALG12 - ALG12, alpha-1,6-mannosyltransferase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
CRELD2 - cysteine rich with EGF like domains 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135101.2 | 486 | Missense Mutation | CTC,TTC | L,F 116 | NP_001128573.1 | |
NM_001284317.1 | 486 | Missense Mutation | CTC,TTC | L,F 116 | NP_001271246.1 | |
NM_001284318.1 | 486 | Missense Mutation | CTC,TTC | L,F 116 | NP_001271247.1 | |
NM_024324.4 | 486 | Missense Mutation | CTC,TTC | L,F 116 | NP_077300.3 | |
XM_005261737.2 | 486 | Missense Mutation | CTC,TTC | L,F 116 | XP_005261794.1 | |
XM_005261738.4 | 486 | Missense Mutation | CTC,TTC | L,F 116 | XP_005261795.1 | |
XM_011530372.2 | 486 | Missense Mutation | CTC,TTC | L,F 116 | XP_011528674.1 | |
XM_017028938.1 | 486 | Missense Mutation | CTC,TTC | L,F 15 | XP_016884427.1 |