Product Details

SNP ID

rs200420976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:57471471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCTGAGTCAGAGCTGGAACTGT[A/C]CCAGAGAAGCTGTCCCTGGGCCTCT

Phenotype

Polymorphism

A/C, Transversion 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	1043	Missense Mutation	GAC,TAC	D299Y	NP_001269985.1
NM_001283057.1	1043	Missense Mutation	GAC,TAC	D258Y	NP_001269986.1
NM_001283058.1	1043	Missense Mutation	GAC,TAC	D170Y	NP_001269987.1
NM_001283059.1	1043	Missense Mutation	GAC,TAC	D170Y	NP_001269988.1
NM_001283060.1	1043	Intron			NP_001269989.1
NM_018168.3	1043	Missense Mutation	GAC,TAC	D259Y	NP_060638.2
XM_005267806.1	1043	Intron			XP_005267863.1
XM_005267810.3	1043	Missense Mutation	GAC,TAC	D180Y	XP_005267867.1
XM_005267811.3	1043	Missense Mutation	GAC,TAC	D171Y	XP_005267868.1
XM_005267813.1	1043	Missense Mutation	GAC,TAC	D133Y	XP_005267870.1
XM_005267814.1	1043	Missense Mutation	GAC,TAC	D132Y	XP_005267871.1
XM_006720188.2	1043	Intron			XP_006720251.1
XM_006720189.2	1043	Missense Mutation	GAC,TAC	D181Y	XP_006720252.1

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