Product Details

SNP ID

rs138513724

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23181098 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGGCCTCCATTCGGCGCCTGGA[G/T]CAGGAGGTGAACCAGGAGCGCTTCC

Phenotype

MIM: 151410 MIM: 605663

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BCR PubMed Links

Gene Details

Gene

BCR

Gene Name

BCR, RhoGEF and GTPase activating protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004327.3	734	Missense Mutation	GAG,GAT	E46D	NP_004318.3
NM_021574.2	734	Missense Mutation	GAG,GAT	E46D	NP_067585.2

Gene

RSPH14

Gene Name

radial spoke head 14 homolog

There are no transcripts associated with this gene.

View Full Product Details