Product Details

SNP ID

rs147799875

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:190098761 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGATCAAACCAGCTATTGAGGC[A/G]CATGTCATTGCTGATAAAAATGGCA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRINP3 PubMed Links

Gene Details

Gene

BRINP3

Gene Name

BMP/retinoic acid inducible neural specific 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317188.1	2133	Missense Mutation	CGC,TGC	R418C	NP_001304117.1
NM_199051.2	2133	Missense Mutation	CGC,TGC	R520C	NP_950252.1
XM_011509472.2	2133	Missense Mutation	CGC,TGC	R490C	XP_011507774.1
XM_011509475.2	2133	Missense Mutation	CGC,TGC	R477C	XP_011507777.1
XM_011509476.2	2133	Missense Mutation	CGC,TGC	R418C	XP_011507778.1
XM_017001125.1	2133	Missense Mutation	CGC,TGC	R520C	XP_016856614.1
XM_017001126.1	2133	Missense Mutation	CGC,TGC	R520C	XP_016856615.1
XM_017001127.1	2133	Missense Mutation	CGC,TGC	R490C	XP_016856616.1
XM_017001128.1	2133	Missense Mutation	CGC,TGC	R490C	XP_016856617.1
XM_017001129.1	2133	Missense Mutation	CGC,TGC	R418C	XP_016856618.1
XM_017001130.1	2133	Missense Mutation	CGC,TGC	R418C	XP_016856619.1
XM_017001131.1	2133	Missense Mutation	CGC,TGC	R227C	XP_016856620.1
XM_017001132.1	2133	Intron			XP_016856621.1
XM_017001133.1	2133	Intron			XP_016856622.1

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