Product Details

SNP ID: rs147808288
Assay Type: Functionally tested
NCBI dbSNP Submissions: 4
Location: Chr.1:209780510 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTGGAGTCCAAAGTCCTTCCCTAA[C/G]GAAGTGGAGCCTGAGGGTACAGGGA
Phenotype: MIM: 607199 MIM: 608255
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: C1orf74 PubMed Links

Gene Details

Gene: C1orf74
Gene Name: chromosome 1 open reading frame 74

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152485.3	1790	UTR 3			NP_689698.1

Gene: IRF6
Gene Name: interferon regulatory factor 6

There are no transcripts associated with this gene.

Gene: TRAF3IP3
Gene Name: TRAF3 interacting protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287754.1	1790	Intron			NP_001274683.1
NM_001320143.1	1790	Silent Mutation	AAC,AAG	N451K	NP_001307072.1
NM_001320144.1	1790	Silent Mutation	AAC,AAG	N431K	NP_001307073.1
NM_025228.3	1790	Silent Mutation	AAC,AAG	N451K	NP_079504.2
XM_005273279.4	1790	Missense Mutation	AAC,AAG	N187K	XP_005273336.1
XM_005273280.2	1790	Missense Mutation	AAC,AAG	N187K	XP_005273337.1
XM_011510018.2	1790	Intron			XP_011508320.1
XM_011510019.1	1790	Intron			XP_011508321.1
XM_017002399.1	1790	Missense Mutation	AAC,AAG	N431K	XP_016857888.1
XM_017002400.1	1790	Intron			XP_016857889.1

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