Product Details

SNP ID

rs143788333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21672365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGCTTAAGAAGTACGGGACCA[A/G]CCCCAGCAATGGAGAGGTAGGTGGC

Phenotype

MIM: 607588

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPIL2 PubMed Links

Gene Details

Gene

PPIL2

Gene Name

peptidylprolyl isomerase like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317996.1	343	Missense Mutation	AAC,AGC	N76S	NP_001304925.1
NM_014337.3	343	Missense Mutation	AAC,AGC	N76S	NP_055152.1
NM_148175.2	343	Missense Mutation	AAC,AGC	N76S	NP_680480.1
NM_148176.2	343	Missense Mutation	AAC,AGC	N76S	NP_680481.1
XM_005261448.3	343	Missense Mutation	AAC,AGC	N76S	XP_005261505.1
XM_011530041.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528343.1
XM_011530042.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528344.1
XM_011530043.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528345.1
XM_011530044.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528346.1
XM_011530046.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528348.1
XM_011530047.2	343	Missense Mutation	AAC,AGC	N76S	XP_011528349.1
XM_011530049.2	343	UTR 5			XP_011528351.1
XM_011530050.2	343	UTR 5			XP_011528352.1
XM_011530051.2	343	UTR 5			XP_011528353.1
XM_017028705.1	343	Intron			XP_016884194.1
XM_017028706.1	343	Intron			XP_016884195.1

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