Product Details

SNP ID
rs200161747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:21637088 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTTACCTTTACCATTGTTGACA[C/T]GGGATGAATCCTGGATAGATTTTTC
Phenotype
MIM: 150100
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LDHB PubMed Links

Gene Details

Gene
LDHB
Gene Name
lactate dehydrogenase B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174097.2 1047 Missense Mutation ATG,GTG M274V NP_001167568.1
NM_001315537.1 1047 Intron NP_001302466.1
NM_002300.7 1047 Intron NP_002291.1
XM_006719074.2 1047 Missense Mutation ATG,GTG M274V XP_006719137.1

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