Product Details

SNP ID

rs11554833

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAGGCCTTGTACTGGTCGGAGGT[A/G]AGGGAGAGTGGGTGGCTGTTGGAAA

Phenotype

MIM: 610837 MIM: 603734

Polymorphism

A/G, 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	1520	Missense Mutation	CAC,TAC	H409Y	NP_001184051.1
NM_001197123.1	1520	Silent Mutation	CTC,CTT	L368L	NP_001184052.1
NM_001197124.1	1520	Silent Mutation	CTC,CTT	L276L	NP_001184053.1
NM_001197125.1	1520	Silent Mutation	CTC,CTT	L257L	NP_001184054.1
NM_001197126.1	1520	Silent Mutation	CTC,CTT	L257L	NP_001184055.1
NM_001197127.1	1520	Silent Mutation	CTC,CTT	L130L	NP_001184056.1
NM_001197128.1	1520	Silent Mutation	CTC,CTT	L130L	NP_001184057.1
NM_001571.5	1520	Silent Mutation	CTC,CTT	L403L	NP_001562.1
XM_006723197.1	1520	Missense Mutation	CAC,TAC	H409Y	XP_006723260.1
XM_006723198.1	1520	Missense Mutation	CAC,TAC	H409Y	XP_006723261.1
XM_006723200.1	1520	Missense Mutation	CAC,TAC	H374Y	XP_006723263.1
XM_006723201.1	1520	Missense Mutation	CAC,TAC	H263Y	XP_006723264.1
XM_006723202.2	1520	Missense Mutation	CAC,TAC	H263Y	XP_006723265.1
XM_017026766.1	1520	Silent Mutation	CTC,CTT	L403L	XP_016882255.1
XM_017026767.1	1520	Silent Mutation	CTC,CTT	L403L	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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