Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAAGTGAAGCAGAAAATGAGGATC[A/G]GGAAGCAGGGGAACTGCCGACCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 616236 MIM: 611865 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHADL 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
|
CHADL - chondroadherin like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138481.1 | 347 | Intron | NP_612490.1 | |||
XM_005261370.3 | 347 | UTR 3 | XP_005261427.1 | |||
XM_011529932.2 | 347 | UTR 3 | XP_011528234.1 | |||
XM_011529933.2 | 347 | Intron | XP_011528235.1 | |||
XM_011529934.2 | 347 | UTR 3 | XP_011528236.1 |
L3MBTL2 - L3MBTL2 polycomb repressive complex 1 subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031488.4 | 347 | Missense Mutation | CAG,CGG | Q,R 59 | NP_113676.2 | |
XM_011530420.2 | 347 | Missense Mutation | AGG,GGG | R,G 86 | XP_011528722.1 | |
XM_011530421.2 | 347 | UTR 5 | XP_011528723.1 | |||
XM_017028976.1 | 347 | Missense Mutation | CAG,CGG | Q,R 59 | XP_016884465.1 | |
XM_017028977.1 | 347 | Intron | XP_016884466.1 | |||
XM_017028978.1 | 347 | UTR 5 | XP_016884467.1 | |||
XM_017028979.1 | 347 | UTR 5 | XP_016884468.1 | |||
XM_017028980.1 | 347 | UTR 5 | XP_016884469.1 |