Product Details

SNP ID

rs200992969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:57471378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTATTCTTGATCAAAAAACTCAT[C/T]GAAAAGTGGGATTCTCTCTGTCCTG

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	1136	Missense Mutation	AAT,GAT	N330D	NP_001269985.1
NM_001283057.1	1136	Missense Mutation	AAT,GAT	N289D	NP_001269986.1
NM_001283058.1	1136	Missense Mutation	AAT,GAT	N201D	NP_001269987.1
NM_001283059.1	1136	Missense Mutation	AAT,GAT	N201D	NP_001269988.1
NM_001283060.1	1136	Intron			NP_001269989.1
NM_018168.3	1136	Missense Mutation	AAT,GAT	N290D	NP_060638.2
XM_005267806.1	1136	Intron			XP_005267863.1
XM_005267810.3	1136	Missense Mutation	AAT,GAT	N211D	XP_005267867.1
XM_005267811.3	1136	Missense Mutation	AAT,GAT	N202D	XP_005267868.1
XM_005267813.1	1136	Missense Mutation	AAT,GAT	N164D	XP_005267870.1
XM_005267814.1	1136	Missense Mutation	AAT,GAT	N163D	XP_005267871.1
XM_006720188.2	1136	Intron			XP_006720251.1
XM_006720189.2	1136	Missense Mutation	AAT,GAT	N212D	XP_006720252.1

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