Product Details

SNP ID

rs200641500

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:209897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGGTGACTCCTGAAGGGAACC[A/C]CCCACCCACGCTCCTTCCTTCCCAA

Phenotype

MIM: 615417 MIM: 608356 MIM: 609146 MIM: 604481

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

BET1L PubMed Links

Additional Information

For this assay, SNP(s) [rs571957041] are located under a probe 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

BET1L

Gene Name

Bet1 golgi vesicular membrane trafficking protein like

There are no transcripts associated with this gene.

Gene

MIR6743

Gene Name

microRNA 6743

There are no transcripts associated with this gene.

Gene

ODF3

Gene Name

outer dense fiber of sperm tails 3

There are no transcripts associated with this gene.

Gene

RIC8A

Gene Name

RIC8 guanine nucleotide exchange factor A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286134.1	1153	Missense Mutation	CAC,CCC	H208P	NP_001273063.1
NM_021932.5	1153	Missense Mutation	CAC,CCC	H208P	NP_068751.4
XM_005253052.3	1153	Missense Mutation	CAC,CCC	H212P	XP_005253109.1
XM_017018107.1	1153	Missense Mutation	CAC,CCC	H98P	XP_016873596.1

Gene

SIRT3

Gene Name

sirtuin 3

There are no transcripts associated with this gene.

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