Product Details

SNP ID

rs189039907

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:72060480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCCCATCTGCCTACCTTCAAAG[A/G]ATTATGCAGAAGTAGGGCGTGTGGG

Phenotype

MIM: 140100 MIM: 140210

Polymorphism

A/G, Transition 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	695	Missense Mutation	AAT,GAT	N212D	NP_001119574.1
NM_001318138.1	695	Missense Mutation	AAT,GAT	N212D	NP_001305067.1
NM_005143.4	695	Missense Mutation	AAT,GAT	N271D	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	695	Intron			NP_001135789.1
NM_001142318.1	695	Intron			NP_001135790.1
NM_001324354.1	695	Intron			NP_001311283.1
NM_001324355.1	695	Intron			NP_001311284.1
NM_017853.2	695	Intron			NP_060323.1
XM_017023377.1	695	Intron			XP_016878866.1

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