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SNP ID

rs201226254

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:207090361 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAATAGCATATTTGTCGCAAAG[A/G]AGGTGGAAGGACAGATTCTGGGGAC

Phenotype

MIM: 120831 MIM: 171835

Polymorphism

A/G, 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	402	Missense Mutation	AAG,GAG	K38E	NP_000707.1
NM_001017364.1	402	Missense Mutation	AAG,GAG	K37E	NP_001017364.1
NM_001017365.2	402	Missense Mutation	AAG,GAG	K38E	NP_001017365.1
NM_001017366.2	402	Missense Mutation	AAG,GAG	K37E	NP_001017366.1
NM_001017367.1	402	Missense Mutation	AAG,GAG	K38E	NP_001017367.1
XM_005273254.4	402	Missense Mutation	AAG,GAG	K38E	XP_005273311.1
XM_005273255.2	402	Missense Mutation	AAG,GAG	K37E	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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