Product Details

SNP ID

rs139989420

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49152328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCACCTGGCACTGGTCGCAGTG[C/T]TCACCCATGTTCTCCTCATCACAGT

Phenotype

MIM: 142705 MIM: 603144 MIM: 606936

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HRC PubMed Links

Gene Details

Gene

HRC

Gene Name

histidine rich calcium binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002152.2	2140	Silent Mutation	GAA,GAG	E651E	NP_002143.1
XM_017026733.1	2140	UTR 3			XP_016882222.1

Gene

PPFIA3

Gene Name

PTPRF interacting protein alpha 3

There are no transcripts associated with this gene.

Gene

TRPM4

Gene Name

transient receptor potential cation channel subfamily M member 4

There are no transcripts associated with this gene.

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