Product Details

SNP ID

rs1152530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:57471542 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATTTTGCCAATTTTCCAGGGACAG[C/T]AGTTATTCACTGCTTGATGTTTCAA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C14orf105 PubMed Links

Gene Details

Gene

C14orf105

Gene Name

chromosome 14 open reading frame 105

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001283056.1	972	Missense Mutation	TAC,TGC	Y275C	NP_001269985.1
NM_001283057.1	972	Missense Mutation	TAC,TGC	Y234C	NP_001269986.1
NM_001283058.1	972	Missense Mutation	TAC,TGC	Y146C	NP_001269987.1
NM_001283059.1	972	Missense Mutation	TAC,TGC	Y146C	NP_001269988.1
NM_001283060.1	972	Intron			NP_001269989.1
NM_018168.3	972	Missense Mutation	TAC,TGC	Y235C	NP_060638.2
XM_005267806.1	972	Intron			XP_005267863.1
XM_005267810.3	972	Missense Mutation	TAC,TGC	Y156C	XP_005267867.1
XM_005267811.3	972	Missense Mutation	TAC,TGC	Y147C	XP_005267868.1
XM_005267813.1	972	Missense Mutation	TAC,TGC	Y109C	XP_005267870.1
XM_005267814.1	972	Missense Mutation	TAC,TGC	Y108C	XP_005267871.1
XM_006720188.2	972	UTR 3			XP_006720251.1
XM_006720189.2	972	Missense Mutation	TAC,TGC	Y157C	XP_006720252.1

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