Product Details

SNP ID

rs144245485

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61683557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAAAGGTCTTTAGCTAAAATGCA[A/G]TCTGAATTGTTAGCCAATCTATTTC

Phenotype

MIM: 605882

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRIP1 PubMed Links

Gene Details

Gene

BRIP1

Gene Name

BRCA1 interacting protein C-terminal helicase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032043.2	4286	Silent Mutation	GAC,GAT	D1163D	NP_114432.2
XM_011525332.2	4286	Silent Mutation	GAC,GAT	D1183D	XP_011523634.1
XM_011525333.2	4286	Silent Mutation	GAC,GAT	D1183D	XP_011523635.1
XM_011525334.2	4286	Silent Mutation	GAC,GAT	D1183D	XP_011523636.1
XM_011525335.2	4286	Silent Mutation	GAC,GAT	D1163D	XP_011523637.1
XM_011525336.2	4286	Silent Mutation	GAC,GAT	D1143D	XP_011523638.1
XM_011525337.2	4286	Silent Mutation	GAC,GAT	D1116D	XP_011523639.1
XM_011525338.2	4286	Silent Mutation	GAC,GAT	D1022D	XP_011523640.1
XM_011525339.2	4286	Intron			XP_011523641.1
XM_011525340.2	4286	Intron			XP_011523642.1
XM_011525341.2	4286	Intron			XP_011523643.1
XM_017025200.1	4286	Silent Mutation	GAC,GAT	D1002D	XP_016880689.1
XM_017025201.1	4286	Silent Mutation	GAC,GAT	D1002D	XP_016880690.1
XM_017025202.1	4286	Silent Mutation	GAC,GAT	D545D	XP_016880691.1
XM_017025203.1	4286	Silent Mutation	GAC,GAT	D545D	XP_016880692.1

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