Product Details

SNP ID

rs141496153

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTACTGGTCGGAGGTGAGGGAGA[C/G]TGGGTGGCTGTTGGAAATGTGCAGG

Phenotype

MIM: 610837 MIM: 603734

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BCL2L12 PubMed Links

Gene Details

Gene

BCL2L12

Gene Name

BCL2 like 12

There are no transcripts associated with this gene.

Gene

IRF3

Gene Name

interferon regulatory factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197122.1	1512	Missense Mutation	ACT,AGT	T406S	NP_001184051.1
NM_001197123.1	1512	Missense Mutation	CTC,GTC	L366V	NP_001184052.1
NM_001197124.1	1512	Missense Mutation	CTC,GTC	L274V	NP_001184053.1
NM_001197125.1	1512	Missense Mutation	CTC,GTC	L255V	NP_001184054.1
NM_001197126.1	1512	Missense Mutation	CTC,GTC	L255V	NP_001184055.1
NM_001197127.1	1512	Missense Mutation	CTC,GTC	L128V	NP_001184056.1
NM_001197128.1	1512	Missense Mutation	CTC,GTC	L128V	NP_001184057.1
NM_001571.5	1512	Missense Mutation	CTC,GTC	L401V	NP_001562.1
XM_006723197.1	1512	Missense Mutation	ACT,AGT	T406S	XP_006723260.1
XM_006723198.1	1512	Missense Mutation	ACT,AGT	T406S	XP_006723261.1
XM_006723200.1	1512	Missense Mutation	ACT,AGT	T371S	XP_006723263.1
XM_006723201.1	1512	Missense Mutation	ACT,AGT	T260S	XP_006723264.1
XM_006723202.2	1512	Missense Mutation	ACT,AGT	T260S	XP_006723265.1
XM_017026766.1	1512	Missense Mutation	CTC,GTC	L401V	XP_016882255.1
XM_017026767.1	1512	Missense Mutation	CTC,GTC	L401V	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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