Product Details

SNP ID

rs1339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:153710411 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATAGATAATGCCTTGAACTATTCC[C/T]ATCACCACAGGTTGCCAGGCCACCA

Phenotype

MIM: 603028

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RNF175 PubMed Links

Gene Details

Gene

RNF175

Gene Name

ring finger protein 175

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173662.2	1402	Missense Mutation	ATA,ATG	I315M	NP_775933.1
XM_005262938.3	1402	Missense Mutation	ATA,ATG	I281M	XP_005262995.1
XM_005262939.3	1402	Missense Mutation	ATA,ATG	I235M	XP_005262996.1
XM_005262940.4	1402	Missense Mutation	ATA,ATG	I234M	XP_005262997.1
XM_011531879.2	1402	Missense Mutation	ATA,ATG	I283M	XP_011530181.1
XM_011531881.2	1402	Missense Mutation	ATA,ATG	I275M	XP_011530183.1
XM_011531882.2	1402	Intron			XP_011530184.1
XM_011531883.2	1402	Missense Mutation	ATA,ATG	I243M	XP_011530185.1
XM_017008047.1	1402	Missense Mutation	ATA,ATG	I216M	XP_016863536.1

Gene

TLR2

Gene Name

toll like receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318787.1	1402	Intron			NP_001305716.1
NM_001318789.1	1402	Intron			NP_001305718.1
NM_001318790.1	1402	Intron			NP_001305719.1
NM_001318791.1	1402	Intron			NP_001305720.1
NM_001318793.1	1402	Intron			NP_001305722.1
NM_001318795.1	1402	Intron			NP_001305724.1
NM_001318796.1	1402	Intron			NP_001305725.1
NM_003264.4	1402	Intron			NP_003255.2
XM_011532215.2	1402	UTR 3			XP_011530517.1
XM_011532216.2	1402	UTR 3			XP_011530518.1
XM_017008573.1	1402	UTR 3			XP_016864062.1
XM_017008574.1	1402	UTR 3			XP_016864063.1
XM_017008575.1	1402	UTR 3			XP_016864064.1
XM_017008576.1	1402	UTR 3			XP_016864065.1

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