Product Details

SNP ID

rs147771144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:53944987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTGCACTTGAGCATCCAACATCC[A/G]CTTTGGTCCCTGGAGAAAAACAGAA

Phenotype

MIM: 602968

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCAS1 PubMed Links

Gene Details

Gene

BCAS1

Gene Name

breast carcinoma amplified sequence 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316361.2	1766	Missense Mutation	CGG,TGG	R486W	NP_001303290.1
NM_001323347.1	1766	Missense Mutation	CGG,TGG	R486W	NP_001310276.1
NM_003657.3	1766	Missense Mutation	CGG,TGG	R564W	NP_003648.2
XM_005260587.2	1766	Missense Mutation	CGG,TGG	R609W	XP_005260644.1
XM_005260589.2	1766	Missense Mutation	CGG,TGG	R595W	XP_005260646.1
XM_005260590.2	1766	Missense Mutation	CGG,TGG	R587W	XP_005260647.1
XM_005260591.2	1766	Missense Mutation	CGG,TGG	R573W	XP_005260648.1
XM_005260593.2	1766	Missense Mutation	CGG,TGG	R550W	XP_005260650.1
XM_005260594.2	1766	Missense Mutation	CGG,TGG	R531W	XP_005260651.1
XM_005260595.2	1766	Missense Mutation	CGG,TGG	R517W	XP_005260652.1
XM_011529090.2	1766	Missense Mutation	CGG,TGG	R609W	XP_011527392.1
XM_011529091.2	1766	Missense Mutation	CGG,TGG	R553W	XP_011527393.1
XM_017028110.1	1766	Missense Mutation	CGG,TGG	R542W	XP_016883599.1
XM_017028111.1	1766	Missense Mutation	CGG,TGG	R528W	XP_016883600.1
XM_017028112.1	1766	Missense Mutation	CGG,TGG	R472W	XP_016883601.1

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