Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAACACTCCCCTCACCTCAGCAGG[C/T]GGGAGGCAATGTCTGCACTGATGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604720 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TFR2 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
|
TFR2 - transferrin receptor 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206855.1 | 1138 | Missense Mutation | CAC,CGC | H,R 195 | NP_001193784.1 | |
NM_003227.3 | 1138 | Missense Mutation | CAC,CGC | H,R 366 | NP_003218.2 | |
XM_005250553.4 | 1138 | Missense Mutation | CAC,CGC | H,R 366 | XP_005250610.1 | |
XM_017012573.1 | 1138 | Missense Mutation | CAC,CGC | H,R 366 | XP_016868062.1 |