Product Details

SNP ID

rs199714714

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAATGTGCAGGTCCACAGTATT[C/T]TCCAGGGAGGAGGCACCCCCTACCC

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	1475	Missense Mutation	AAA,GAA	K394E	NP_001184051.1
NM_001197123.1	1475	Silent Mutation	GAA,GAG	E353E	NP_001184052.1
NM_001197124.1	1475	Silent Mutation	GAA,GAG	E261E	NP_001184053.1
NM_001197125.1	1475	Silent Mutation	GAA,GAG	E242E	NP_001184054.1
NM_001197126.1	1475	Silent Mutation	GAA,GAG	E242E	NP_001184055.1
NM_001197127.1	1475	Silent Mutation	GAA,GAG	E115E	NP_001184056.1
NM_001197128.1	1475	Silent Mutation	GAA,GAG	E115E	NP_001184057.1
NM_001571.5	1475	Silent Mutation	GAA,GAG	E388E	NP_001562.1
XM_006723197.1	1475	Missense Mutation	AAA,GAA	K394E	XP_006723260.1
XM_006723198.1	1475	Missense Mutation	AAA,GAA	K394E	XP_006723261.1
XM_006723200.1	1475	Missense Mutation	AAA,GAA	K359E	XP_006723263.1
XM_006723201.1	1475	Missense Mutation	AAA,GAA	K248E	XP_006723264.1
XM_006723202.2	1475	Missense Mutation	AAA,GAA	K248E	XP_006723265.1
XM_017026766.1	1475	Silent Mutation	GAA,GAG	E388E	XP_016882255.1
XM_017026767.1	1475	Silent Mutation	GAA,GAG	E388E	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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