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SNP ID

rs182413444

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:207090471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAAGGAGTGGGATAACACCACTAC[C/T]GAGTGCCGCTGTAAGTTAGATCTTT

Phenotype

MIM: 120831 MIM: 171835

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C4BPB PubMed Links

Gene Details

Gene

C4BPB

Gene Name

complement component 4 binding protein beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000716.3	512	Silent Mutation	ACC,ACT	T74T	NP_000707.1
NM_001017364.1	512	Silent Mutation	ACC,ACT	T73T	NP_001017364.1
NM_001017365.2	512	Silent Mutation	ACC,ACT	T74T	NP_001017365.1
NM_001017366.2	512	Silent Mutation	ACC,ACT	T73T	NP_001017366.1
NM_001017367.1	512	Silent Mutation	ACC,ACT	T74T	NP_001017367.1
XM_005273254.4	512	Silent Mutation	ACC,ACT	T74T	XP_005273311.1
XM_005273255.2	512	Silent Mutation	ACC,ACT	T73T	XP_005273312.1

Gene

PFKFB2

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

There are no transcripts associated with this gene.

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