Product Details

SNP ID

rs199889456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:109575636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCTCCCTGTCAGCCCCTTCCCCC[A/G]TGACCTGCTCTTCCAGAGATAACCC

Phenotype

MIM: 605772 MIM: 611568

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EBAG9 PubMed Links

Gene Details

Gene

EBAG9

Gene Name

estrogen receptor binding site associated, antigen, 9

There are no transcripts associated with this gene.

Gene

SYBU

Gene Name

syntabulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099743.1	1532	Missense Mutation	ACG,ATG	T420M	NP_001093213.1
NM_001099744.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093214.1
NM_001099745.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093215.1
NM_001099746.1	1532	Missense Mutation	ACG,ATG	T302M	NP_001093216.1
NM_001099747.1	1532	Missense Mutation	ACG,ATG	T420M	NP_001093217.1
NM_001099748.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093218.1
NM_001099749.1	1532	Missense Mutation	ACG,ATG	T302M	NP_001093219.1
NM_001099750.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093220.1
NM_001099751.1	1532	Missense Mutation	ACG,ATG	T420M	NP_001093221.1
NM_001099752.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093222.1
NM_001099753.1	1532	Missense Mutation	ACG,ATG	T420M	NP_001093223.1
NM_001099754.1	1532	Missense Mutation	ACG,ATG	T421M	NP_001093224.1
NM_001099755.1	1532	Missense Mutation	ACG,ATG	T302M	NP_001093225.1
NM_001099756.1	1532	Missense Mutation	ACG,ATG	T418M	NP_001093226.1
NM_017786.5	1532	Missense Mutation	ACG,ATG	T420M	NP_060256.3
XM_005250999.1	1532	Missense Mutation	ACG,ATG	T291M	XP_005251056.1
XM_005251000.1	1532	Missense Mutation	ACG,ATG	T258M	XP_005251057.1
XM_011517154.2	1532	Missense Mutation	ACG,ATG	T254M	XP_011515456.1
XM_017013614.1	1532	Missense Mutation	ACG,ATG	T302M	XP_016869103.1
XM_017013615.1	1532	Missense Mutation	ACG,ATG	T302M	XP_016869104.1

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