Product Details

SNP ID
rs112893535
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26444108 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCCACCAGGTTGGCTGATAGGA[A/G]CTGTAGGGGGATAGGACCGCGCTCA
Phenotype
MIM: 606682
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ASPHD2 PubMed Links

Gene Details

Gene
ASPHD2
Gene Name
aspartate beta-hydroxylase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020437.4 3279 UTR 3 NP_065170.2
Gene
HPS4
Gene Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022081.5 3279 Intron NP_071364.4
NM_152841.2 3279 Intron NP_690054.1
XM_006724353.3 3279 Intron XP_006724416.1
XM_006724354.3 3279 Intron XP_006724417.1
XM_006724360.3 3279 Intron XP_006724423.1
XM_011530485.1 3279 Intron XP_011528787.1
XM_011530486.2 3279 Intron XP_011528788.1
XM_011530487.2 3279 Intron XP_011528789.1
XM_011530488.2 3279 Intron XP_011528790.1
XM_011530489.2 3279 Intron XP_011528791.1
XM_011530490.2 3279 Intron XP_011528792.1
XM_011530491.2 3279 Intron XP_011528793.1
XM_011530492.1 3279 UTR 3 XP_011528794.1
XM_011530493.2 3279 Intron XP_011528795.1
XM_011530494.2 3279 Intron XP_011528796.1
XM_011530495.2 3279 Intron XP_011528797.1
XM_011530496.2 3279 Intron XP_011528798.1
XM_017029042.1 3279 Intron XP_016884531.1
XM_017029043.1 3279 Intron XP_016884532.1
XM_017029044.1 3279 Intron XP_016884533.1
XM_017029045.1 3279 UTR 3 XP_016884534.1
XM_017029046.1 3279 Intron XP_016884535.1
XM_017029047.1 3279 Intron XP_016884536.1
XM_017029048.1 3279 UTR 3 XP_016884537.1
XM_017029049.1 3279 UTR 3 XP_016884538.1
XM_017029050.1 3279 Intron XP_016884539.1
XM_017029051.1 3279 Intron XP_016884540.1
XM_017029052.1 3279 Intron XP_016884541.1
XM_017029053.1 3279 Intron XP_016884542.1
XM_017029054.1 3279 Intron XP_016884543.1
XM_017029055.1 3279 Intron XP_016884544.1
XM_017029056.1 3279 Intron XP_016884545.1
XM_017029057.1 3279 Intron XP_016884546.1
XM_017029058.1 3279 Intron XP_016884547.1
XM_017029059.1 3279 Intron XP_016884548.1
XM_017029060.1 3279 Intron XP_016884549.1
XM_017029061.1 3279 Intron XP_016884550.1
XM_017029062.1 3279 Intron XP_016884551.1
XM_017029063.1 3279 Intron XP_016884552.1
XM_017029064.1 3279 Intron XP_016884553.1

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