Product Details

SNP ID

rs150028589

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49665959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTACGCTGGGCCGGTTATCGA[C/G]CCGGCCCAGTGCGCAGGCGCGGGAA

Phenotype

MIM: 610837 MIM: 603734

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

BCL2L12 PubMed Links

Additional Information

For this assay, SNP(s) [rs2060263] 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

BCL2L12

Gene Name

BCL2 like 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040668.1	818	Missense Mutation	CCC,GCC	P46A	NP_001035758.1
NM_001282516.1	818	Missense Mutation	CCC,GCC	P46A	NP_001269445.1
NM_001282517.1	818	Missense Mutation	CCC,GCC	P46A	NP_001269446.1
NM_001282519.1	818	Missense Mutation	CCC,GCC	P46A	NP_001269448.1
NM_001282520.1	818	Missense Mutation	CCC,GCC	P46A	NP_001269449.1
NM_001282521.1	818	Missense Mutation	CCC,GCC	P46A	NP_001269450.1
NM_138639.1	818	Missense Mutation	CCC,GCC	P46A	NP_619580.1
XM_017027345.1	818	Missense Mutation	CCC,GCC	P46A	XP_016882834.1
XM_017027346.1	818	Missense Mutation	CCC,GCC	P46A	XP_016882835.1

Gene

IRF3

Gene Name

interferon regulatory factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197122.1	818	Intron			NP_001184051.1
NM_001197123.1	818	Intron			NP_001184052.1
NM_001197124.1	818	Intron			NP_001184053.1
NM_001197125.1	818	Intron			NP_001184054.1
NM_001197126.1	818	Intron			NP_001184055.1
NM_001197127.1	818	Intron			NP_001184056.1
NM_001197128.1	818	Intron			NP_001184057.1
NM_001571.5	818	Intron			NP_001562.1
XM_006723197.1	818	Intron			XP_006723260.1
XM_006723198.1	818	Intron			XP_006723261.1
XM_006723200.1	818	Intron			XP_006723263.1
XM_006723201.1	818	Intron			XP_006723264.1
XM_006723202.2	818	Intron			XP_006723265.1
XM_017026766.1	818	Intron			XP_016882255.1
XM_017026767.1	818	Intron			XP_016882256.1

Gene

SCAF1

Gene Name

SR-related CTD associated factor 1

There are no transcripts associated with this gene.

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