Product Details

SNP ID

rs148734778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:210595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGACGCTGCCCTTTACCGACAC[C/T]TGGGGACCCTTCTCCGGCACTGTGT

Phenotype

MIM: 615417 MIM: 609146 MIM: 604481

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BET1L PubMed Links

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

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	1281	Silent Mutation	CTG,TTG	L251L	NP_001273063.1
NM_021932.5	1281	Silent Mutation	CTG,TTG	L251L	NP_068751.4
XM_005253052.3	1281	Silent Mutation	CTG,TTG	L255L	XP_005253109.1
XM_017018107.1	1281	Silent Mutation	CTG,TTG	L141L	XP_016873596.1

Gene

SIRT3

Gene Name

sirtuin 3

There are no transcripts associated with this gene.

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