Product Details

SNP ID
rs148871407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:102109069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGCGAAGGTGCTAGCTGGGCTC[C/T]TCTTCTTGCTGTTGCTGTTGTTGGT
Phenotype
MIM: 603451
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LDB1 PubMed Links

Gene Details

Gene
LDB1
Gene Name
LIM domain binding 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113407.2 619 Missense Mutation AAG,AGG K322R NP_001106878.1
NM_001321612.1 619 Missense Mutation AAG,AGG K322R NP_001308541.1
NM_003893.4 619 Missense Mutation AAG,AGG K286R NP_003884.1
XM_017016867.1 619 Missense Mutation AAG,AGG K322R XP_016872356.1
XM_017016868.1 619 Missense Mutation AAG,AGG K322R XP_016872357.1
XM_017016869.1 619 Missense Mutation AAG,AGG K153R XP_016872358.1

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