Product Details

SNP ID

rs199561166

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23180998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGCTTCGCGGAGGCGTGGAAGG[A/C]GCAGTTCCCGGACTCAGAGCCCCCG

Phenotype

MIM: 151410 MIM: 605663

Polymorphism

A/C, 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	634	Missense Mutation	GAG,GCG	E13A	NP_004318.3
NM_021574.2	634	Missense Mutation	GAG,GCG	E13A	NP_067585.2

Gene

RSPH14

Gene Name

radial spoke head 14 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014433.2	634	Intron			NP_055248.1
XM_011530149.2	634	Intron			XP_011528451.1
XM_011530150.1	634	Intron			XP_011528452.1
XM_011530151.2	634	Intron			XP_011528453.1
XM_011530152.2	634	Intron			XP_011528454.1
XM_011530154.2	634	Intron			XP_011528456.1
XM_011530155.2	634	Intron			XP_011528457.1
XM_017028774.1	634	Intron			XP_016884263.1

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