Product Details

SNP ID
rs138310236
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100626828 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTCTCCTCCGAGCTGTAGATCT[C/T]CTGCCGCAGCTTTTCCGCCGCCCGG
Phenotype
MIM: 604720
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TFR2 PubMed Links

Gene Details

Gene
TFR2
Gene Name
transferrin receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206855.1 2112 Missense Mutation AAG,GAG K520E NP_001193784.1
NM_003227.3 2112 Missense Mutation AAG,GAG K691E NP_003218.2
XM_005250553.4 2112 Missense Mutation AAG,GAG K691E XP_005250610.1
XM_017012573.1 2112 Missense Mutation AAG,GAG K691E XP_016868062.1

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