Product Details

SNP ID
rs200219990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:68285348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAATTGGTAAAGAGCTGTCCTAC[C/T]ATGCATTTCTTTCTTCCCCAGATGC
Phenotype
MIM: 612189
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PBLD PubMed Links

Gene Details

Gene
PBLD
Gene Name
phenazine biosynthesis like protein domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033083.1 925 Missense Mutation AGT,GGT S252G NP_001028255.1
NM_022129.3 925 Missense Mutation ACT,GCT T252A NP_071412.2
XM_005270028.3 925 Missense Mutation ACT,GCT T252A XP_005270085.1
XM_011540060.2 925 Missense Mutation ATA,ATG I243M XP_011538362.1
XM_017016513.1 925 Missense Mutation ATA,ATG I243M XP_016872002.1
XM_017016514.1 925 Intron XP_016872003.1

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