Product Details

SNP ID

rs147048613

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGGTGAGGGAGAGTGGGTGGCT[C/G]TTGGAAATGTGCAGGTCCACAGTAT

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	1502	Missense Mutation	CAG,GAG	Q403E	NP_001184051.1
NM_001197123.1	1502	Missense Mutation	AAC,AAG	N362K	NP_001184052.1
NM_001197124.1	1502	Missense Mutation	AAC,AAG	N270K	NP_001184053.1
NM_001197125.1	1502	Missense Mutation	AAC,AAG	N251K	NP_001184054.1
NM_001197126.1	1502	Missense Mutation	AAC,AAG	N251K	NP_001184055.1
NM_001197127.1	1502	Missense Mutation	AAC,AAG	N124K	NP_001184056.1
NM_001197128.1	1502	Missense Mutation	AAC,AAG	N124K	NP_001184057.1
NM_001571.5	1502	Missense Mutation	AAC,AAG	N397K	NP_001562.1
XM_006723197.1	1502	Missense Mutation	CAG,GAG	Q403E	XP_006723260.1
XM_006723198.1	1502	Missense Mutation	CAG,GAG	Q403E	XP_006723261.1
XM_006723200.1	1502	Missense Mutation	CAG,GAG	Q368E	XP_006723263.1
XM_006723201.1	1502	Missense Mutation	CAG,GAG	Q257E	XP_006723264.1
XM_006723202.2	1502	Missense Mutation	CAG,GAG	Q257E	XP_006723265.1
XM_017026766.1	1502	Missense Mutation	AAC,AAG	N397K	XP_016882255.1
XM_017026767.1	1502	Missense Mutation	AAC,AAG	N397K	XP_016882256.1

Gene

SCAF1

Gene Name

SR-related CTD associated factor 1

There are no transcripts associated with this gene.

View Full Product Details