Product Details

SNP ID

rs139024725

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75230020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGTTCCAGTCGTTCAAACTGCT[C/T]CAGCTGGGGCAGGAGGGAAGCAGGA

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	2678	Missense Mutation	AAG,GAG	K748E	NP_001164185.1
NM_001170715.1	2678	Missense Mutation	AAG,GAG	K720E	NP_001164186.1
NM_001170716.1	2678	Missense Mutation	AAG,GAG	K720E	NP_001164187.1
NM_001170717.1	2678	Missense Mutation	AAG,GAG	K720E	NP_001164188.1
NM_001170718.1	2678	Missense Mutation	AAG,GAG	K702E	NP_001164189.1
NM_001170719.1	2678	Missense Mutation	AAG,GAG	K700E	NP_001164190.1
NM_001170720.1	2678	Missense Mutation	AAG,GAG	K554E	NP_001164191.1
NM_001170721.1	2678	Missense Mutation	AAG,GAG	K492E	NP_001164192.1
NM_014567.3	2678	Missense Mutation	AAG,GAG	K702E	NP_055382.2
XM_005256258.4	2678	Missense Mutation	AAG,GAG	K728E	XP_005256315.1
XM_005256259.4	2678	Missense Mutation	AAG,GAG	K702E	XP_005256316.1
XM_005256260.4	2678	Missense Mutation	AAG,GAG	K673E	XP_005256317.1
XM_011523475.2	2678	Missense Mutation	AAG,GAG	K673E	XP_011521777.1
XM_017023897.1	2678	Missense Mutation	AAG,GAG	K748E	XP_016879386.1
XM_017023898.1	2678	Missense Mutation	AAG,GAG	K718E	XP_016879387.1
XM_017023899.1	2678	Missense Mutation	AAG,GAG	K655E	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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