Product Details

SNP ID

rs1049486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCACCCCCTACCCGGGCCATTT[C/T]TACCAAGGCCCTGAGGCACGTGGGC

Phenotype

MIM: 610837 MIM: 603734

Polymorphism

C/T, Transition 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	1440	Missense Mutation	AAA,AGA	K382R	NP_001184051.1
NM_001197123.1	1440	Missense Mutation	AAA,GAA	K342E	NP_001184052.1
NM_001197124.1	1440	Missense Mutation	AAA,GAA	K250E	NP_001184053.1
NM_001197125.1	1440	Missense Mutation	AAA,GAA	K231E	NP_001184054.1
NM_001197126.1	1440	Missense Mutation	AAA,GAA	K231E	NP_001184055.1
NM_001197127.1	1440	Missense Mutation	AAA,GAA	K104E	NP_001184056.1
NM_001197128.1	1440	Missense Mutation	AAA,GAA	K104E	NP_001184057.1
NM_001571.5	1440	Missense Mutation	AAA,GAA	K377E	NP_001562.1
XM_006723197.1	1440	Missense Mutation	AAA,AGA	K382R	XP_006723260.1
XM_006723198.1	1440	Missense Mutation	AAA,AGA	K382R	XP_006723261.1
XM_006723200.1	1440	Missense Mutation	AAA,AGA	K347R	XP_006723263.1
XM_006723201.1	1440	Missense Mutation	AAA,AGA	K236R	XP_006723264.1
XM_006723202.2	1440	Missense Mutation	AAA,AGA	K236R	XP_006723265.1
XM_017026766.1	1440	Missense Mutation	AAA,GAA	K377E	XP_016882255.1
XM_017026767.1	1440	Missense Mutation	AAA,GAA	K377E	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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