Product Details

SNP ID

rs7251

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49659652 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACACCATGAGGAGCGAGGGCTCAG[C/G]TCTCCCCAGGGCCCTGGAAATCCAT

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	1591	Missense Mutation	GAC,GAG	D432E	NP_001184051.1
NM_001197123.1	1591	Missense Mutation	ACC,AGC	T392S	NP_001184052.1
NM_001197124.1	1591	Missense Mutation	ACC,AGC	T300S	NP_001184053.1
NM_001197125.1	1591	Missense Mutation	ACC,AGC	T281S	NP_001184054.1
NM_001197126.1	1591	Missense Mutation	ACC,AGC	T281S	NP_001184055.1
NM_001197127.1	1591	Missense Mutation	ACC,AGC	T154S	NP_001184056.1
NM_001197128.1	1591	Missense Mutation	ACC,AGC	T154S	NP_001184057.1
NM_001571.5	1591	Missense Mutation	ACC,AGC	T427S	NP_001562.1
XM_006723197.1	1591	Missense Mutation	GAC,GAG	D432E	XP_006723260.1
XM_006723198.1	1591	Missense Mutation	GAC,GAG	D432E	XP_006723261.1
XM_006723200.1	1591	Missense Mutation	GAC,GAG	D397E	XP_006723263.1
XM_006723201.1	1591	Missense Mutation	GAC,GAG	D286E	XP_006723264.1
XM_006723202.2	1591	Missense Mutation	GAC,GAG	D286E	XP_006723265.1
XM_017026766.1	1591	Missense Mutation	ACC,AGC	T427S	XP_016882255.1
XM_017026767.1	1591	Missense Mutation	ACC,AGC	T427S	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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