Product Details

SNP ID

rs181244551

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:209780562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGAAAGACTGGGATCTCAGAGAC[C/G]AGCTGCAAAAGAAGACTTTGCAGCT

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	1842	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	1842	Intron			NP_001274683.1
NM_001320143.1	1842	Missense Mutation	CAG,GAG	Q469E	NP_001307072.1
NM_001320144.1	1842	Missense Mutation	CAG,GAG	Q449E	NP_001307073.1
NM_025228.3	1842	Missense Mutation	CAG,GAG	Q469E	NP_079504.2
XM_005273279.4	1842	Missense Mutation	CAG,GAG	Q205E	XP_005273336.1
XM_005273280.2	1842	Missense Mutation	CAG,GAG	Q205E	XP_005273337.1
XM_011510018.2	1842	Intron			XP_011508320.1
XM_011510019.1	1842	Intron			XP_011508321.1
XM_017002399.1	1842	Missense Mutation	CAG,GAG	Q449E	XP_016857888.1
XM_017002400.1	1842	Intron			XP_016857889.1

View Full Product Details