Product Details

SNP ID: rs75426652
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:124461954 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACGACAGCGGCGCGGGCGGCGGCA[A/C]GGCCATCGCCGGCTCGGTGGAGGCG
Phenotype
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: LHPP PubMed Links

Gene Details

Gene: LHPP
Gene Name: phospholysine phosphohistidine inorganic pyrophosphate phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167880.1	183	Missense Mutation	AAG,ACG	K31T	NP_001161352.1
NM_001318331.1	183	Missense Mutation	AAG,ACG	K31T	NP_001305260.1
NM_001318332.1	183	Missense Mutation	AAG,ACG	K31T	NP_001305261.1
NM_022126.3	183	Missense Mutation	AAG,ACG	K31T	NP_071409.3
XM_005270026.3	183	Missense Mutation	AAG,ACG	K31T	XP_005270083.1
XM_006717943.1	183	Missense Mutation	AAG,ACG	K31T	XP_006718006.1
XM_011540058.2	183	Missense Mutation	AAG,ACG	K31T	XP_011538360.1
XM_017016509.1	183	Missense Mutation	AAG,ACG	K31T	XP_016871998.1
XM_017016510.1	183	Missense Mutation	AAG,ACG	K31T	XP_016871999.1
XM_017016511.1	183	Missense Mutation	AAG,ACG	K31T	XP_016872000.1
XM_017016512.1	183	Intron			XP_016872001.1