Product Details

SNP ID

rs13417443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241316500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATAAGCGAGGGGAGAGCGACTAG[A/G]CCCTGTCTGCGGGTACCTTCGGCGA

Phenotype

MIM: 142695 MIM: 601506

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HDLBP PubMed Links

Gene Details

Gene

HDLBP

Gene Name

high density lipoprotein binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243900.2	166	Intron			NP_001230829.1
NM_001320965.1	166	Intron			NP_001307894.1
NM_001320966.1	166	Intron			NP_001307895.1
NM_001320967.1	166	Intron			NP_001307896.1
NM_005336.5	166	Intron			NP_005327.1
NM_203346.4	166	Intron			NP_976221.1
XM_005247002.3	166	Intron			XP_005247059.2
XM_005247003.4	166	Intron			XP_005247060.2
XM_006712475.3	166	Intron			XP_006712538.1
XM_011511058.2	166	Intron			XP_011509360.1
XM_011511060.2	166	Intron			XP_011509362.1
XM_017003940.1	166	Intron			XP_016859429.1
XM_017003941.1	166	Intron			XP_016859430.1
XM_017003942.1	166	Intron			XP_016859431.1

Gene

SEPT2

Gene Name

septin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008491.2	166	Intron			NP_001008491.1
NM_001008492.2	166	Intron			NP_001008492.1
NM_001282972.1	166	Silent Mutation	AGA,AGG	R11R	NP_001269901.1
NM_001282973.1	166	UTR 5			NP_001269902.1
NM_001321029.1	166	Silent Mutation	AGA,AGG	R11R	NP_001307958.1
NM_001321030.1	166	Intron			NP_001307959.1
NM_001321031.1	166	UTR 5			NP_001307960.1
NM_001321032.1	166	Intron			NP_001307961.1
NM_001321033.1	166	UTR 5			NP_001307962.1
NM_001321034.1	166	UTR 5			NP_001307963.1
NM_001321035.1	166	Intron			NP_001307964.1
NM_004404.4	166	Intron			NP_004395.1
NM_006155.2	166	Intron			NP_006146.1
XM_011511237.1	166	Intron			XP_011509539.1
XM_011511238.1	166	Intron			XP_011509540.1
XM_011511240.1	166	Intron			XP_011509542.1
XM_017004189.1	166	Silent Mutation	AGA,AGG	R11R	XP_016859678.1
XM_017004190.1	166	Silent Mutation	AGA,AGG	R11R	XP_016859679.1
XM_017004191.1	166	Silent Mutation	AGA,AGG	R11R	XP_016859680.1
XM_017004192.1	166	Silent Mutation	AGA,AGG	R11R	XP_016859681.1
XM_017004193.1	166	Intron			XP_016859682.1
XM_017004194.1	166	UTR 5			XP_016859683.1
XM_017004195.1	166	UTR 5			XP_016859684.1
XM_017004196.1	166	UTR 5			XP_016859685.1
XM_017004197.1	166	Intron			XP_016859686.1
XM_017004198.1	166	UTR 5			XP_016859687.1
XM_017004199.1	166	UTR 5			XP_016859688.1
XM_017004200.1	166	Intron			XP_016859689.1
XM_017004201.1	166	Intron			XP_016859690.1
XM_017004202.1	166	Intron			XP_016859691.1
XM_017004203.1	166	Intron			XP_016859692.1
XM_017004204.1	166	Intron			XP_016859693.1
XM_017004205.1	166	UTR 5			XP_016859694.1
XM_017004206.1	166	Intron			XP_016859695.1
XM_017004207.1	166	Intron			XP_016859696.1
XM_017004208.1	166	Intron			XP_016859697.1
XM_017004209.1	166	Intron			XP_016859698.1
XM_017004210.1	166	Intron			XP_016859699.1
XM_017004211.1	166	Intron			XP_016859700.1
XM_017004212.1	166	Intron			XP_016859701.1
XM_017004213.1	166	Silent Mutation	AGA,AGG	R11R	XP_016859702.1

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