Product Details

SNP ID
rs116819712
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:61501834 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAAGGGTCAATTTCAATTTCAAA[A/G]AGCTGTTCTTTAAATGAGATAAAGA
Phenotype
MIM: 600582 MIM: 611292
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ASPH PubMed Links

Gene Details

Gene
ASPH
Gene Name
aspartate beta-hydroxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164750.1 3854 UTR 3 NP_001158222.1
NM_001164751.1 3854 Intron NP_001158223.1
NM_001164752.1 3854 Intron NP_001158224.1
NM_001164753.1 3854 Intron NP_001158225.1
NM_001164754.1 3854 Intron NP_001158226.1
NM_001164755.1 3854 Intron NP_001158227.1
NM_001164756.1 3854 Intron NP_001158228.1
NM_004318.3 3854 UTR 3 NP_004309.2
NM_020164.4 3854 Intron NP_064549.1
NM_032466.3 3854 Intron NP_115855.1
NM_032467.3 3854 Intron NP_115856.1
NM_032468.4 3854 Intron NP_115857.1
XM_005251235.2 3854 UTR 3 XP_005251292.1
XM_005251236.2 3854 UTR 3 XP_005251293.1
XM_005251238.2 3854 UTR 3 XP_005251295.1
XM_005251239.2 3854 UTR 3 XP_005251296.1
XM_005251240.1 3854 UTR 3 XP_005251297.1
XM_005251242.2 3854 UTR 3 XP_005251299.1
XM_005251243.2 3854 UTR 3 XP_005251300.1
XM_005251244.1 3854 UTR 3 XP_005251301.1
XM_005251246.2 3854 UTR 3 XP_005251303.1
XM_005251247.2 3854 UTR 3 XP_005251304.1
XM_005251248.1 3854 UTR 3 XP_005251305.1
XM_005251250.2 3854 UTR 3 XP_005251307.1
XM_017013419.1 3854 UTR 3 XP_016868908.1
XM_017013420.1 3854 UTR 3 XP_016868909.1
XM_017013421.1 3854 UTR 3 XP_016868910.1
XM_017013422.1 3854 UTR 3 XP_016868911.1
XM_017013423.1 3854 UTR 3 XP_016868912.1
XM_017013424.1 3854 UTR 3 XP_016868913.1
XM_017013425.1 3854 UTR 3 XP_016868914.1
XM_017013426.1 3854 UTR 3 XP_016868915.1
XM_017013427.1 3854 UTR 3 XP_016868916.1
XM_017013428.1 3854 UTR 3 XP_016868917.1
XM_017013429.1 3854 UTR 3 XP_016868918.1
XM_017013430.1 3854 UTR 3 XP_016868919.1
XM_017013431.1 3854 UTR 3 XP_016868920.1
XM_017013432.1 3854 UTR 3 XP_016868921.1
XM_017013433.1 3854 UTR 3 XP_016868922.1
XM_017013434.1 3854 UTR 3 XP_016868923.1
XM_017013435.1 3854 UTR 3 XP_016868924.1
XM_017013436.1 3854 UTR 3 XP_016868925.1
XM_017013437.1 3854 UTR 3 XP_016868926.1
XM_017013438.1 3854 UTR 3 XP_016868927.1
XM_017013439.1 3854 UTR 3 XP_016868928.1
XM_017013440.1 3854 UTR 3 XP_016868929.1
XM_017013441.1 3854 UTR 3 XP_016868930.1
XM_017013442.1 3854 UTR 3 XP_016868931.1
XM_017013443.1 3854 UTR 3 XP_016868932.1
XM_017013444.1 3854 UTR 3 XP_016868933.1
XM_017013445.1 3854 Intron XP_016868934.1
XM_017013446.1 3854 Intron XP_016868935.1
XM_017013447.1 3854 Intron XP_016868936.1
Gene
CLVS1
Gene Name
clavesin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173519.2 3854 Intron NP_775790.1
XM_017013141.1 3854 Intron XP_016868630.1
XM_017013142.1 3854 Intron XP_016868631.1

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