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Gene Symbol
ASPH
Assay Reference Genome
Location

Chr.8:61501224 on build GRCh38
Cytoband
8q12.3
Assay ID Hs02490202_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 444

Gene Name:

 aspartate beta-hydroxylase

Gene Aliases:

 AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin

Location:

 Chr.8:61500556-61714640 on Build GRCh38

Assay Gene Location:

 Within Exon 32
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ASPH NM_001164750.1 25 4486 NP_001158222.1
NM_004318.3 25 4681 NP_004309.2
XM_005251235.2 26 4695 XP_005251292.1
XM_005251236.2 26 4692 XP_005251293.1
XM_005251238.2 25 4650 XP_005251295.1
XM_005251239.2 25 4638 XP_005251296.1
XM_005251240.1 26 4473 XP_005251297.1
XM_005251242.2 24 4593 XP_005251299.1
XM_005251243.2 25 4566 XP_005251300.1
XM_005251244.1 25 4413 XP_005251301.1
XM_005251246.2 24 4521 XP_005251303.1
XM_005251247.2 24 4509 XP_005251304.1
XM_005251248.1 24 4279 XP_005251305.1
XM_005251250.2 23 4464 XP_005251307.1
XM_017013419.1 27 4776 XP_016868908.1
XM_017013420.1 27 4773 XP_016868909.1
XM_017013421.1 26 4734 XP_016868910.1
XM_017013422.1 26 4731 XP_016868911.1
XM_017013423.1 26 4731 XP_016868912.1
XM_017013424.1 26 4728 XP_016868913.1
XM_017013425.1 26 4719 XP_016868914.1
XM_017013426.1 27 4554 XP_016868915.1
XM_017013427.1 27 4551 XP_016868916.1
XM_017013428.1 25 4674 XP_016868917.1
XM_017013429.1 25 4647 XP_016868918.1
XM_017013430.1 26 4647 XP_016868919.1
XM_017013431.1 26 4417 XP_016868920.1
XM_017013432.1 26 4644 XP_016868921.1
XM_017013433.1 26 4414 XP_016868922.1
XM_017013434.1 25 4635 XP_016868923.1
XM_017013435.1 26 4494 XP_016868924.1
XM_017013436.1 24 4608 XP_016868925.1
XM_017013437.1 25 4602 XP_016868926.1
XM_017013438.1 25 4563 XP_016868927.1
XM_017013439.1 25 4333 XP_016868928.1
XM_017013440.1 26 4425 XP_016868929.1
XM_017013441.1 24 4518 XP_016868930.1
XM_017013442.1 24 4506 XP_016868931.1
XM_017013443.1 23 4461 XP_016868932.1
XM_017013444.1 24 4207 XP_016868933.1
AF339775.1 1 1352
AK096383.1 1 1332

Target Gene Details

Entrez Gene ID:

 157807

Gene Name:

 clavesin 1

Gene Aliases:

 CRALBPL, RLBP1L1

Location:

 Chr.8:61057158-61501645 on Build GRCh38

Assay Gene Location:

 Within Exon 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CLVS1 NM_173519.2 6 3071 NP_775790.1
XM_017013141.1 7 3062 XP_016868630.1
XM_017013142.1 7 3219 XP_016868631.1
AK094567.1 2 3004
AK125153.1 5 2318
AY094971.1 6 3029 AAM15733.1
BC042617.1 6 3046 AAH42617.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3617390 Chr.8:61457269 - 61656463 on Build GRCh38 Gain CLVS1 ASPH
esv3617389 Chr.8:61453750 - 61594908 on Build GRCh38 Gain CLVS1 ASPH
nsv521898 Chr.8:61452104 - 61506561 on Build GRCh38 Gain CLVS1 ASPH
nsv1029046 Chr.8:61311782 - 61622718 on Build GRCh38 Gain CLVS1 ASPH

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