Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGGCGAGGAGGGCGGGGCCTCACC[C/T]GCATTATGCGCACGTTGTACATGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604720 | ||||||||||||||||||||
Literature Links: |
TFR2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TFR2 - transferrin receptor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206855.1 | 2176 | Missense Mutation | CAG,CGG | Q,R 541 | NP_001193784.1 | |
NM_003227.3 | 2176 | Missense Mutation | CAG,CGG | Q,R 712 | NP_003218.2 | |
XM_005250553.4 | 2176 | Missense Mutation | CAG,CGG | Q,R 712 | XP_005250610.1 | |
XM_017012573.1 | 2176 | Missense Mutation | CAG,CGG | Q,R 712 | XP_016868062.1 |