Product Details

SNP ID

rs147078987

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75229743 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCGTGACAGTGTGTCCCCGATG[A/T]ACACCAGCTTGTGGGCGCTGAGGAT

Phenotype

MIM: 602941 MIM: 118890

Polymorphism

A/T, Transversion 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	2955	Missense Mutation	TAC,TTC	Y840F	NP_001164185.1
NM_001170715.1	2955	Missense Mutation	TAC,TTC	Y812F	NP_001164186.1
NM_001170716.1	2955	Missense Mutation	TAC,TTC	Y812F	NP_001164187.1
NM_001170717.1	2955	Missense Mutation	TAC,TTC	Y812F	NP_001164188.1
NM_001170718.1	2955	Missense Mutation	TAC,TTC	Y794F	NP_001164189.1
NM_001170719.1	2955	Missense Mutation	TAC,TTC	Y792F	NP_001164190.1
NM_001170720.1	2955	Missense Mutation	TAC,TTC	Y646F	NP_001164191.1
NM_001170721.1	2955	Missense Mutation	TAC,TTC	Y584F	NP_001164192.1
NM_014567.3	2955	Missense Mutation	TAC,TTC	Y794F	NP_055382.2
XM_005256258.4	2955	Missense Mutation	TAC,TTC	Y820F	XP_005256315.1
XM_005256259.4	2955	Missense Mutation	TAC,TTC	Y794F	XP_005256316.1
XM_005256260.4	2955	Missense Mutation	TAC,TTC	Y765F	XP_005256317.1
XM_011523475.2	2955	Missense Mutation	TAC,TTC	Y765F	XP_011521777.1
XM_017023897.1	2955	Missense Mutation	TAC,TTC	Y840F	XP_016879386.1
XM_017023898.1	2955	Missense Mutation	TAC,TTC	Y810F	XP_016879387.1
XM_017023899.1	2955	Missense Mutation	TAC,TTC	Y747F	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.

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