Product Details

SNP ID

rs139167479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75229516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCTGGGGTCACCACCCTCAGG[C/T]GGCTGCCAGCTGGCCTAGGACGCGG

Phenotype

MIM: 602941 MIM: 118890

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCAR1 PubMed Links

Gene Details

Gene

BCAR1

Gene Name

BCAR1, Cas family scaffolding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170714.1	3182	Missense Mutation	ACC,GCC	T916A	NP_001164185.1
NM_001170715.1	3182	Missense Mutation	ACC,GCC	T888A	NP_001164186.1
NM_001170716.1	3182	Missense Mutation	ACC,GCC	T888A	NP_001164187.1
NM_001170717.1	3182	Missense Mutation	ACC,GCC	T888A	NP_001164188.1
NM_001170718.1	3182	Missense Mutation	ACC,GCC	T870A	NP_001164189.1
NM_001170719.1	3182	Missense Mutation	ACC,GCC	T868A	NP_001164190.1
NM_001170720.1	3182	Missense Mutation	ACC,GCC	T722A	NP_001164191.1
NM_001170721.1	3182	Missense Mutation	ACC,GCC	T660A	NP_001164192.1
NM_014567.3	3182	Missense Mutation	ACC,GCC	T870A	NP_055382.2
XM_005256258.4	3182	Missense Mutation	ACC,GCC	T896A	XP_005256315.1
XM_005256259.4	3182	Missense Mutation	ACC,GCC	T870A	XP_005256316.1
XM_005256260.4	3182	Missense Mutation	ACC,GCC	T841A	XP_005256317.1
XM_011523475.2	3182	Missense Mutation	ACC,GCC	T841A	XP_011521777.1
XM_017023897.1	3182	Missense Mutation	ACC,GCC	T916A	XP_016879386.1
XM_017023898.1	3182	Missense Mutation	ACC,GCC	T886A	XP_016879387.1
XM_017023899.1	3182	Missense Mutation	ACC,GCC	T823A	XP_016879388.1

Gene

CTRB1

Gene Name

chymotrypsinogen B1

There are no transcripts associated with this gene.

Gene

LOC100506281

Gene Name

uncharacterized LOC100506281

There are no transcripts associated with this gene.

View Full Product Details