Product Details

SNP ID

rs112539379

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23181122 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGGAGGTGAACCAGGAGCGCTT[C/T]CGCATGATCTACCTGCAGACGTTGC

Phenotype

MIM: 151410 MIM: 605663

Polymorphism

C/T, Transition 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	758	Silent Mutation	TTC,TTT	F54F	NP_004318.3
NM_021574.2	758	Silent Mutation	TTC,TTT	F54F	NP_067585.2

Gene

RSPH14

Gene Name

radial spoke head 14 homolog

There are no transcripts associated with this gene.

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