Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGGGCCCGCGCCCTGGGAAGCCC[C/G]GGAGCCGCCGCAGCCGCAGAGGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614094 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MARVELD3 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
|
MARVELD3 - MARVEL domain containing 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017967.3 | 490 | Missense Mutation | CCG,CGG | P,R 138 | NP_001017967.2 | |
NM_001271329.1 | 490 | Intron | NP_001258258.1 | |||
NM_052858.5 | 490 | Missense Mutation | CCG,CGG | P,R 138 | NP_443090.4 | |
XM_011523449.2 | 490 | Missense Mutation | CCG,CGG | P,R 138 | XP_011521751.1 |