Product Details

SNP ID

rs144198452

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:19950914 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTTGGACATGGCTAGTCGAGGC[A/G]CAACAAGACCCAACGGGCCAAATAC

Phenotype

MIM: 179512

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

EFHB PubMed Links

Additional Information

For this assay, SNP(s) [rs6773437] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EFHB

Gene Name

EF-hand domain family member B

There are no transcripts associated with this gene.

Gene

RAB5A

Gene Name

RAB5A, member RAS oncogene family

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001292048.1	551	Missense Mutation	ACA,GCA	T6A	NP_001278977.1
NM_004162.4	551	Missense Mutation	ACA,GCA	T6A	NP_004153.2

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