Product Details

SNP ID

rs200987726

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135562832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCACCTTTCAGGGAGAACAACAG[C/G]TGTGTTGAGAAGAAGGTCCTTGGAG

Phenotype

MIM: 173310

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PAEP PubMed Links

Gene Details

Gene

PAEP

Gene Name

progestagen associated endometrial protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018048.1	229	Missense Mutation	AGC,AGG	S61R	NP_001018058.1
NM_001018049.2	229	Missense Mutation	AGC,AGG	S83R	NP_001018059.1
NM_002571.3	229	Missense Mutation	AGC,AGG	S83R	NP_002562.2
XM_011518745.2	229	Missense Mutation	AGC,AGG	S83R	XP_011517047.1
XM_011518746.2	229	Missense Mutation	AGC,AGG	S83R	XP_011517048.1
XM_011518747.2	229	Missense Mutation	AGC,AGG	S83R	XP_011517049.1
XM_011518748.1	229	Missense Mutation	AGC,AGG	S61R	XP_011517050.1
XM_011518749.2	229	Missense Mutation	AGC,AGG	S83R	XP_011517051.1
XM_011518751.1	229	Missense Mutation	AGC,AGG	S61R	XP_011517053.1
XM_011518752.2	229	Missense Mutation	AGC,AGG	S83R	XP_011517054.1
XM_017014782.1	229	Intron			XP_016870271.1
XM_017014783.1	229	Missense Mutation	AGC,AGG	S83R	XP_016870272.1

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