Product Details

SNP ID

rs11557739

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:42888471 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCTTTTCGAGGTCAGTTGATGAAG[A/G]CCAGATAGGAGTCAATATTTTCTCA

Phenotype

MIM: 607441

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPSTI1 PubMed Links

Gene Details

Gene

EPSTI1

Gene Name

epithelial stromal interaction 1 (breast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005266596.1	1494	Missense Mutation	CCT,TCT	P327S	XP_005266653.1
XM_005266597.1	1494	UTR 3			XP_005266654.1
XM_006719896.3	1494	Intron			XP_006719959.1
XM_011535312.1	1494	Missense Mutation	CCT,TCT	P211S	XP_011533614.1
XM_011535313.1	1494	Missense Mutation	CCT,TCT	P211S	XP_011533615.1
XM_011535314.1	1494	Missense Mutation	CCT,TCT	P156S	XP_011533616.1
XM_017020853.1	1494	Missense Mutation	CCT,TCT	P211S	XP_016876342.1
XM_017020854.1	1494	Missense Mutation	CCT,TCT	P211S	XP_016876343.1
XM_017020855.1	1494	Missense Mutation	CCT,TCT	P211S	XP_016876344.1

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