Product Details

SNP ID
rs200868666
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49158256 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTTCATAGTTGACTCCACAGATC[C/T]GGGGTGAGGAGTTCGCCCCTGGACT
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
There are no transcripts associated with this gene.

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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195227.1 215 Missense Mutation CCG,CTG P30L NP_001182156.1
NM_001321281.1 215 Missense Mutation CCG,CTG P30L NP_001308210.1
NM_001321282.1 215 UTR 5 NP_001308211.1
NM_001321283.1 215 UTR 5 NP_001308212.1
NM_001321285.1 215 UTR 5 NP_001308214.1
NM_017636.3 215 Missense Mutation CCG,CTG P30L NP_060106.2
XM_005259017.1 215 Intron XP_005259074.1

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