Product Details

SNP ID

rs141861375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:61503378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATGCTAAATTGCTGGAAGGCTG[C/T]GTCTCTGCTGTGGTGTCAGTTCCGG

Phenotype

MIM: 600582 MIM: 611292

Polymorphism

C/T, 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	2310	Missense Mutation	CAC,CGC	H724R	NP_001158222.1
NM_001164751.1	2310	Intron			NP_001158223.1
NM_001164752.1	2310	Intron			NP_001158224.1
NM_001164753.1	2310	Intron			NP_001158225.1
NM_001164754.1	2310	Intron			NP_001158226.1
NM_001164755.1	2310	Intron			NP_001158227.1
NM_001164756.1	2310	Intron			NP_001158228.1
NM_004318.3	2310	Missense Mutation	CAC,CGC	H753R	NP_004309.2
NM_020164.4	2310	Intron			NP_064549.1
NM_032466.3	2310	Intron			NP_115855.1
NM_032467.3	2310	Intron			NP_115856.1
NM_032468.4	2310	Intron			NP_115857.1
XM_005251235.2	2310	Missense Mutation	CAC,CGC	H768R	XP_005251292.1
XM_005251236.2	2310	Missense Mutation	CAC,CGC	H767R	XP_005251293.1
XM_005251238.2	2310	Missense Mutation	CAC,CGC	H753R	XP_005251295.1
XM_005251239.2	2310	Missense Mutation	CAC,CGC	H749R	XP_005251296.1
XM_005251240.1	2310	Missense Mutation	CAC,CGC	H739R	XP_005251297.1
XM_005251242.2	2310	Missense Mutation	CAC,CGC	H734R	XP_005251299.1
XM_005251243.2	2310	Missense Mutation	CAC,CGC	H725R	XP_005251300.1
XM_005251244.1	2310	Missense Mutation	CAC,CGC	H719R	XP_005251301.1
XM_005251246.2	2310	Missense Mutation	CAC,CGC	H710R	XP_005251303.1
XM_005251247.2	2310	Missense Mutation	CAC,CGC	H706R	XP_005251304.1
XM_005251248.1	2310	Missense Mutation	CAC,CGC	H705R	XP_005251305.1
XM_005251250.2	2310	Missense Mutation	CAC,CGC	H691R	XP_005251307.1
XM_017013419.1	2310	Missense Mutation	CAC,CGC	H795R	XP_016868908.1
XM_017013420.1	2310	Missense Mutation	CAC,CGC	H794R	XP_016868909.1
XM_017013421.1	2310	Missense Mutation	CAC,CGC	H781R	XP_016868910.1
XM_017013422.1	2310	Missense Mutation	CAC,CGC	H780R	XP_016868911.1
XM_017013423.1	2310	Missense Mutation	CAC,CGC	H780R	XP_016868912.1
XM_017013424.1	2310	Missense Mutation	CAC,CGC	H779R	XP_016868913.1
XM_017013425.1	2310	Missense Mutation	CAC,CGC	H776R	XP_016868914.1
XM_017013426.1	2310	Missense Mutation	CAC,CGC	H766R	XP_016868915.1
XM_017013427.1	2310	Missense Mutation	CAC,CGC	H765R	XP_016868916.1
XM_017013428.1	2310	Missense Mutation	CAC,CGC	H761R	XP_016868917.1
XM_017013429.1	2310	Missense Mutation	CAC,CGC	H752R	XP_016868918.1
XM_017013430.1	2310	Missense Mutation	CAC,CGC	H752R	XP_016868919.1
XM_017013431.1	2310	Missense Mutation	CAC,CGC	H751R	XP_016868920.1
XM_017013432.1	2310	Missense Mutation	CAC,CGC	H751R	XP_016868921.1
XM_017013433.1	2310	Missense Mutation	CAC,CGC	H750R	XP_016868922.1
XM_017013434.1	2310	Missense Mutation	CAC,CGC	H748R	XP_016868923.1
XM_017013435.1	2310	Missense Mutation	CAC,CGC	H746R	XP_016868924.1
XM_017013436.1	2310	Missense Mutation	CAC,CGC	H739R	XP_016868925.1
XM_017013437.1	2310	Missense Mutation	CAC,CGC	H737R	XP_016868926.1
XM_017013438.1	2310	Missense Mutation	CAC,CGC	H724R	XP_016868927.1
XM_017013439.1	2310	Missense Mutation	CAC,CGC	H723R	XP_016868928.1
XM_017013440.1	2310	Missense Mutation	CAC,CGC	H723R	XP_016868929.1
XM_017013441.1	2310	Missense Mutation	CAC,CGC	H709R	XP_016868930.1
XM_017013442.1	2310	Missense Mutation	CAC,CGC	H705R	XP_016868931.1
XM_017013443.1	2310	Missense Mutation	CAC,CGC	H690R	XP_016868932.1
XM_017013444.1	2310	Missense Mutation	CAC,CGC	H681R	XP_016868933.1
XM_017013445.1	2310	Intron			XP_016868934.1
XM_017013446.1	2310	Intron			XP_016868935.1
XM_017013447.1	2310	Intron			XP_016868936.1

Gene

CLVS1

Gene Name

clavesin 1

There are no transcripts associated with this gene.

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