Product Details

SNP ID: rs199564947
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:72056163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCCTCCTTGTCTTCTCTCTGCAGTG[A/C]CCTGGGAGCTGTCATTGCCCTCCTG
Phenotype: MIM: 140100 MIM: 140210
Polymorphism: A/C, 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	69	Missense Mutation	GAC,GCC	D3A	NP_001119574.1
NM_001318138.1	69	Missense Mutation	GAC,GCC	D3A	NP_001305067.1
NM_005143.4	69	Missense Mutation	GAC,GCC	D3A	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	69	Intron			NP_001135789.1
NM_001142318.1	69	Intron			NP_001135790.1
NM_001324354.1	69	Intron			NP_001311283.1
NM_001324355.1	69	Intron			NP_001311284.1
NM_017853.2	69	Intron			NP_060323.1
XM_017023377.1	69	Intron			XP_016878866.1

View Full Product Details