Product Details

SNP ID
rs201491574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:73650676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTGCTCATCCACTTCAATGTCC[A/G]TGACATAAAGATCGGCCCAGAGTGC
Phenotype
MIM: 607651
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLEKHB1 PubMed Links

Gene Details

Gene
PLEKHB1
Gene Name
pleckstrin homology domain containing B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130033.1 522 Missense Mutation CAT,CGT H73R NP_001123505.1
NM_001130034.1 522 Missense Mutation CAT,CGT H54R NP_001123506.1
NM_001130035.1 522 Missense Mutation CAT,CGT H54R NP_001123507.1
NM_001130036.1 522 Missense Mutation CAT,CGT H54R NP_001123508.1
NM_021200.2 522 Missense Mutation CAT,CGT H73R NP_067023.1
XM_011545192.2 522 Missense Mutation CAT,CGT H54R XP_011543494.1
XM_011545193.2 522 Missense Mutation CAT,CGT H54R XP_011543495.1

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