Product Details

SNP ID
rs200749666
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:78887279 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGTTCTGTTCCTTTCATTTCTC[A/G]TTCAGGCAAGTTACACATGTAACAT
Phenotype
MIM: 614577
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BMP2K PubMed Links

Gene Details

Gene
BMP2K
Gene Name
BMP2 inducible kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017593.3 2223 Intron NP_060063.2
NM_198892.1 2223 Missense Mutation CAT,CGT H686R NP_942595.1
XM_005263117.1 2223 Intron XP_005263174.1
XM_011532102.1 2223 Missense Mutation CAT,CGT H686R XP_011530404.1
XM_017008381.1 2223 Missense Mutation CAT,CGT H606R XP_016863870.1
XM_017008382.1 2223 Missense Mutation CAT,CGT H390R XP_016863871.1
Gene
PAQR3
Gene Name
progestin and adipoQ receptor family member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040202.1 2223 Intron NP_001035292.1
XM_005262769.4 2223 Intron XP_005262826.1
XM_017007785.1 2223 Intron XP_016863274.1

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