Product Details

SNP ID

rs147119058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:2538526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCACGGCATAGGGGCAGTGGGTA[C/T]GCGGCGGCCCCAAAGTCTGGCCCAG

Phenotype

MIM: 614506 MIM: 602576

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BRAT1 PubMed Links

Gene Details

Gene

BRAT1

Gene Name

BRCA1 associated ATM activator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152743.3	2240	Missense Mutation	CAT,CGT	H670R	NP_689956.2
XM_005249643.4	2240	Missense Mutation	CAT,CGT	H730R	XP_005249700.1
XM_011515177.2	2240	Missense Mutation	CAT,CGT	H758R	XP_011513479.1
XM_011515178.1	2240	Missense Mutation	CAT,CGT	H758R	XP_011513480.1
XM_011515179.2	2240	Missense Mutation	CAT,CGT	H757R	XP_011513481.1
XM_011515181.2	2240	Missense Mutation	CAT,CGT	H698R	XP_011513483.1
XM_011515182.2	2240	Missense Mutation	CAT,CGT	H758R	XP_011513484.1
XM_011515183.1	2240	Missense Mutation	CAT,CGT	H583R	XP_011513485.1
XM_011515184.2	2240	Missense Mutation	CAT,CGT	H583R	XP_011513486.1
XM_011515186.2	2240	UTR 3			XP_011513488.1
XM_017011833.1	2240	Missense Mutation	CAT,CGT	H729R	XP_016867322.1
XM_017011834.1	2240	Missense Mutation	CAT,CGT	H669R	XP_016867323.1
XM_017011835.1	2240	Missense Mutation	CAT,CGT	H495R	XP_016867324.1
XM_017011836.1	2240	UTR 3			XP_016867325.1

Gene

LFNG

Gene Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

There are no transcripts associated with this gene.

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