Product Details

SNP ID

rs200521254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:33034209 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTGAAGGTGAAGGATGTCCAGC[C/T]GCCCGTCATCACACTGAACTTTGTA

Phenotype

MIM: 614110

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BPIFB6 PubMed Links

Gene Details

Gene

BPIFB6

Gene Name

BPI fold containing family B member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_174897.2	221	Missense Mutation	CCG,CTG	P74L	NP_777557.1
XM_017027663.1	221	Missense Mutation	CCG,CTG	P90L	XP_016883152.1

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