Product Details

SNP ID

rs201669454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:60948110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACGTACTGTGTCTCCATGAAGT[A/G]AATGACGCGAGCTCGCACAGCCAGG

Phenotype

MIM: 612787

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PUS10 PubMed Links

Gene Details

Gene

PUS10

Gene Name

pseudouridylate synthase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322123.1	1523	Missense Mutation	CAC,TAC	H462Y	NP_001309052.1
NM_001322124.1	1523	Missense Mutation	CAC,TAC	H462Y	NP_001309053.1
NM_001322127.1	1523	Missense Mutation	CAC,TAC	H239Y	NP_001309056.1
NM_144709.3	1523	Missense Mutation	CAC,TAC	H462Y	NP_653310.2
XM_011532568.2	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530870.1
XM_011532570.1	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530872.1
XM_011532571.1	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530873.1
XM_011532572.1	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530874.1
XM_011532573.2	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530875.1
XM_011532574.2	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530876.1
XM_011532576.2	1523	Missense Mutation	CAC,TAC	H462Y	XP_011530878.1
XM_011532578.1	1523	Missense Mutation	CAC,TAC	H399Y	XP_011530880.1
XM_017003428.1	1523	Missense Mutation	CAC,TAC	H377Y	XP_016858917.1
XM_017003429.1	1523	Missense Mutation	CAC,TAC	H377Y	XP_016858918.1

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