Product Details

SNP ID

rs13389423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:214728827 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATACTGTGTGCAGAAGCGCTGATCA[A/G]AATCGGGTCTCGCATGGTATGCGAC

Phenotype

MIM: 601593

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BARD1 PubMed Links

Gene Details

Gene

BARD1

Gene Name

BRCA1 associated RING domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000465.3	786	Missense Mutation	TCT,TTT	S728F	NP_000456.2
NM_001282543.1	786	Missense Mutation	TCT,TTT	S709F	NP_001269472.1
NM_001282545.1	786	Missense Mutation	TCT,TTT	S277F	NP_001269474.1
NM_001282548.1	786	Missense Mutation	TCT,TTT	S258F	NP_001269477.1
NM_001282549.1	786	Missense Mutation	TCT,TTT	S215F	NP_001269478.1
XM_017004613.1	786	Missense Mutation	TCT,TTT	S761F	XP_016860102.1
XM_017004614.1	786	Intron			XP_016860103.1

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