Product Details

SNP ID

rs7005617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:61503515 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTTGCCTTCCTCCCAGGTCCTGCA[A/G]CAGAAAGACAAGGATTCCTGAATAT

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		Intron			NP_001158222.1
NM_001164751.1		Intron			NP_001158223.1
NM_001164752.1		Intron			NP_001158224.1
NM_001164753.1		Intron			NP_001158225.1
NM_001164754.1		Intron			NP_001158226.1
NM_001164755.1		Intron			NP_001158227.1
NM_001164756.1		Intron			NP_001158228.1
NM_004318.3		Intron			NP_004309.2
NM_020164.4		Intron			NP_064549.1
NM_032466.3		Intron			NP_115855.1
NM_032467.3		Intron			NP_115856.1
NM_032468.4		Intron			NP_115857.1
XM_005251235.2		Intron			XP_005251292.1
XM_005251236.2		Intron			XP_005251293.1
XM_005251238.2		Intron			XP_005251295.1
XM_005251239.2		Intron			XP_005251296.1
XM_005251240.1		Intron			XP_005251297.1
XM_005251242.2		Intron			XP_005251299.1
XM_005251243.2		Intron			XP_005251300.1
XM_005251244.1		Intron			XP_005251301.1
XM_005251246.2		Intron			XP_005251303.1
XM_005251247.2		Intron			XP_005251304.1
XM_005251248.1		Intron			XP_005251305.1
XM_005251250.2		Intron			XP_005251307.1
XM_017013419.1		Intron			XP_016868908.1
XM_017013420.1		Intron			XP_016868909.1
XM_017013421.1		Intron			XP_016868910.1
XM_017013422.1		Intron			XP_016868911.1
XM_017013423.1		Intron			XP_016868912.1
XM_017013424.1		Intron			XP_016868913.1
XM_017013425.1		Intron			XP_016868914.1
XM_017013426.1		Intron			XP_016868915.1
XM_017013427.1		Intron			XP_016868916.1
XM_017013428.1		Intron			XP_016868917.1
XM_017013429.1		Intron			XP_016868918.1
XM_017013430.1		Intron			XP_016868919.1
XM_017013431.1		Intron			XP_016868920.1
XM_017013432.1		Intron			XP_016868921.1
XM_017013433.1		Intron			XP_016868922.1
XM_017013434.1		Intron			XP_016868923.1
XM_017013435.1		Intron			XP_016868924.1
XM_017013436.1		Intron			XP_016868925.1
XM_017013437.1		Intron			XP_016868926.1
XM_017013438.1		Intron			XP_016868927.1
XM_017013439.1		Intron			XP_016868928.1
XM_017013440.1		Intron			XP_016868929.1
XM_017013441.1		Intron			XP_016868930.1
XM_017013442.1		Intron			XP_016868931.1
XM_017013443.1		Intron			XP_016868932.1
XM_017013444.1		Intron			XP_016868933.1
XM_017013445.1		Intron			XP_016868934.1
XM_017013446.1		Intron			XP_016868935.1
XM_017013447.1		Intron			XP_016868936.1

Gene

CLVS1

Gene Name

clavesin 1

There are no transcripts associated with this gene.

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