Product Details

SNP ID
rs147719512
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:138405257 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGGCTTTACGAAACTGAACAGCT[A/G]CATTCAAGGCAAAAACGAGAAAGGT
Phenotype
MIM: 605825
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HEBP2 PubMed Links

Gene Details

Gene
HEBP2
Gene Name
heme binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001326380.1 485 Missense Mutation TAC,TGC Y83C NP_001313309.1
NM_001326381.1 485 Missense Mutation TAC,TGC Y72C NP_001313310.1
NM_014320.2 485 Missense Mutation TAC,TGC Y72C NP_055135.1
XM_017010631.1 485 Missense Mutation TAC,TGC Y72C XP_016866120.1

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