Product Details

SNP ID

rs73382365

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21670598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAACAAATTTTCGTCGTTTACCT[C/T]TTGACCACTGCAGGTAAGAGTTTTG

Phenotype

MIM: 607588

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC107985532 PubMed Links

Gene Details

Gene

LOC107985532

Gene Name

uncharacterized LOC107985532

There are no transcripts associated with this gene.

Gene

PPIL2

Gene Name

peptidylprolyl isomerase like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317996.1	231	Missense Mutation	CTT,TTT	L39F	NP_001304925.1
NM_014337.3	231	Missense Mutation	CTT,TTT	L39F	NP_055152.1
NM_148175.2	231	Missense Mutation	CTT,TTT	L39F	NP_680480.1
NM_148176.2	231	Missense Mutation	CTT,TTT	L39F	NP_680481.1
XM_005261448.3	231	Missense Mutation	CTT,TTT	L39F	XP_005261505.1
XM_011530041.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528343.1
XM_011530042.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528344.1
XM_011530043.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528345.1
XM_011530044.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528346.1
XM_011530046.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528348.1
XM_011530047.2	231	Missense Mutation	CTT,TTT	L39F	XP_011528349.1
XM_011530049.2	231	UTR 5			XP_011528351.1
XM_011530050.2	231	UTR 5			XP_011528352.1
XM_011530051.2	231	UTR 5			XP_011528353.1
XM_017028705.1	231	Intron			XP_016884194.1
XM_017028706.1	231	Intron			XP_016884195.1

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