Product Details

SNP ID: rs150611446
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:49151304 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAGTCGAGCGACTGGGTCAGGGTT[C/G]CGGCGTTTCCAGCATGTCTGCCAGG
Phenotype: MIM: 142705 MIM: 603144 MIM: 606936
Polymorphism: C/G, Transversion 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	2279	Missense Mutation	CAA,GAA	Q698E	NP_002143.1
XM_017026733.1	2279	Intron			XP_016882222.1

Gene: PPFIA3
Gene Name: PTPRF interacting protein alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003660.3	2279	Intron			NP_003651.1
XM_017027407.1	2279	Intron			XP_016882896.1

Gene: TRPM4
Gene Name: transient receptor potential cation channel subfamily M member 4

There are no transcripts associated with this gene.

View Full Product Details