Product Details

SNP ID

rs144054907

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:209782139 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCCTGGCCAATAAAGACAACCT[A/G]ATGATCTGAATAATTTGTGACAACT

Phenotype

MIM: 607199 MIM: 608255

Polymorphism

A/G, Transition 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	2084	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	2084	Intron			NP_001274683.1
NM_001320143.1	2084	Silent Mutation	CTA,CTG	L549L	NP_001307072.1
NM_001320144.1	2084	Silent Mutation	CTA,CTG	L529L	NP_001307073.1
NM_025228.3	2084	Silent Mutation	CTA,CTG	L549L	NP_079504.2
XM_005273279.4	2084	Silent Mutation	CTA,CTG	L285L	XP_005273336.1
XM_005273280.2	2084	Silent Mutation	CTA,CTG	L285L	XP_005273337.1
XM_011510018.2	2084	Intron			XP_011508320.1
XM_011510019.1	2084	Intron			XP_011508321.1
XM_017002399.1	2084	Silent Mutation	CTA,CTG	L529L	XP_016857888.1
XM_017002400.1	2084	Intron			XP_016857889.1

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