Product Details

SNP ID

rs4142048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:68284274 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAAATTCCCAGCTCTCCTCCTCGG[T/C]GGGAACACTGAAAAGCTAAAGAAAA

Phenotype

MIM: 612189

Polymorphism

T/C, 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	941	Intron			NP_001028255.1
NM_022129.3	941	Missense Mutation	CAC,CGC	H257R	NP_071412.2
XM_005270028.3	941	Missense Mutation	CAC,CGC	H257R	XP_005270085.1
XM_011540060.2	941	Missense Mutation	ACC,GCC	T249A	XP_011538362.1
XM_017016513.1	941	Missense Mutation	ACC,GCC	T249A	XP_016872002.1
XM_017016514.1	941	Intron			XP_016872003.1

View Full Product Details