Product Details

SNP ID: rs143379381
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:22987495 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTGTGAGGCGCTGGGCCCGGAAA[C/T]GGGGAGGGCGGGCCACCCACACACC
Phenotype: MIM: 609066
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: AJUBA PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130706.2	1516	Missense Mutation	CAT,CGT	H446R	NP_001124178.1
NM_001130708.2	1516	Missense Mutation	CAT,CGT	H446R	NP_001124180.1
NM_001282968.1	1516	Missense Mutation	CAT,CGT	H266R	NP_001269897.1
NM_001282969.1	1516	Missense Mutation	CAT,CGT	H266R	NP_001269898.1
NM_001282970.1	1516	Intron			NP_001269899.1
NM_021944.3	1516	Missense Mutation	CAT,CGT	H446R	NP_068763.2
XM_005267971.1	1516	Missense Mutation	CAT,CGT	H446R	XP_005268028.1
XM_005267972.1	1516	Missense Mutation	CAT,CGT	H446R	XP_005268029.1
XM_006720231.1	1516	Missense Mutation	CAT,CGT	H266R	XP_006720294.1
XM_006720232.2	1516	Missense Mutation	CAT,CGT	H266R	XP_006720295.1
XM_011537059.1	1516	Missense Mutation	CAT,CGT	H446R	XP_011535361.1
XM_011537060.2	1516	Missense Mutation	CAT,CGT	H446R	XP_011535362.1
XM_011537062.1	1516	Missense Mutation	CAT,CGT	H446R	XP_011535364.1
XM_017021569.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877058.1
XM_017021570.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877059.1
XM_017021571.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877060.1
XM_017021572.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877061.1
XM_017021573.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877062.1
XM_017021574.1	1516	Missense Mutation	CAT,CGT	H446R	XP_016877063.1
XM_017021575.1	1516	Missense Mutation	CAT,CGT	H266R	XP_016877064.1
XM_017021576.1	1516	Missense Mutation	CAT,CGT	H266R	XP_016877065.1
XM_017021577.1	1516	Missense Mutation	CAT,CGT	H266R	XP_016877066.1