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SNP ID: rs1063464
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:72060473 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGAGAGTGATGCCCATCTGCCTACC[A/T]TCAAAGGATTATGCAGAAGTAGGGC
Phenotype: MIM: 140100 MIM: 140210
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: HP PubMed Links

Gene Details

Gene: HP
Gene Name: haptoglobin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126102.2	688	Silent Mutation	CCA,CCT	P209P	NP_001119574.1
NM_001318138.1	688	Silent Mutation	CCA,CCT	P209P	NP_001305067.1
NM_005143.4	688	Silent Mutation	CCA,CCT	P268P	NP_005134.1

Gene: HPR
Gene Name: haptoglobin-related protein

There are no transcripts associated with this gene.

Gene: TXNL4B
Gene Name: thioredoxin like 4B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142317.1	688	Intron			NP_001135789.1
NM_001142318.1	688	Intron			NP_001135790.1
NM_001324354.1	688	Intron			NP_001311283.1
NM_001324355.1	688	Intron			NP_001311284.1
NM_017853.2	688	Intron			NP_060323.1
XM_017023377.1	688	Intron			XP_016878866.1

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