Product Details

SNP ID
rs200495504
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:72076629 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCATCAAACTCAAACAGAAGGTG[C/T]TTGTTAATGAGAGAGTGATGCCCAT
Phenotype
MIM: 140210
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HPR PubMed Links

Gene Details

Gene
HPR
Gene Name
haptoglobin-related protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020995.3 625 Missense Mutation CTT,TTT L199F NP_066275.3
Gene
TXNL4B
Gene Name
thioredoxin like 4B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142317.1 625 Intron NP_001135789.1
NM_001142318.1 625 Intron NP_001135790.1
NM_001324354.1 625 Intron NP_001311283.1
NM_001324355.1 625 Intron NP_001311284.1
NM_017853.2 625 Intron NP_060323.1
XM_017023377.1 625 Intron XP_016878866.1

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