Product Details

SNP ID

rs199867500

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:19882556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATGCTTATATGCTATACCTCTTC[C/T]TTTGATCTGGTCTTGAAGAAGTCTC

Phenotype

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EFHB PubMed Links

Additional Information

For this assay, SNP(s) [rs76398910] are located under a probe and SNP(s) [rs79595581] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144715.3	2078	Silent Mutation	AAA,AAG	K774K	NP_653316.3
XM_005264889.1	2078	Missense Mutation	AAG,AGG	K767R	XP_005264946.1
XM_011533382.1	2078	Silent Mutation	AAA,AAG	K753K	XP_011531684.1
XM_011533383.2	2078	Silent Mutation	AAA,AAG	K396K	XP_011531685.2
XM_011533385.2	2078	Silent Mutation	AAA,AAG	K563K	XP_011531687.1
XM_017005741.1	2078	Silent Mutation	AAA,AAG	K644K	XP_016861230.1
XM_017005742.1	2078	Intron			XP_016861231.1
XM_017005743.1	2078	Silent Mutation	AAA,AAG	K396K	XP_016861232.1
XM_017005744.1	2078	Silent Mutation	AAA,AAG	K396K	XP_016861233.1
XM_017005745.1	2078	Missense Mutation	AAG,AGG	K389R	XP_016861234.1

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