Product Details

SNP ID

rs1254319

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.14:60437039 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCATCTTCTCCTTCTGGCTTCTCAA[A/G]TAAGTTTCCTAAGGAAGATAAACAT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C14orf39 PubMed Links

Gene Details

Gene

C14orf39

Gene Name

chromosome 14 open reading frame 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_174978.2	1643	Missense Mutation	CTT,TTT	L524F	NP_777638.2
XM_011536690.2	1643	Missense Mutation	CTT,TTT	L560F	XP_011534992.1
XM_011536703.2	1643	Intron			XP_011535005.1
XM_011536704.1	1643	Intron			XP_011535006.1
XM_017021247.1	1643	Missense Mutation	CTT,TTT	L559F	XP_016876736.1
XM_017021248.1	1643	Missense Mutation	CTT,TTT	L495F	XP_016876737.1
XM_017021249.1	1643	Missense Mutation	CTT,TTT	L432F	XP_016876738.1
XM_017021250.1	1643	Missense Mutation	CTT,TTT	L415F	XP_016876739.1
XM_017021251.1	1643	Missense Mutation	CTT,TTT	L415F	XP_016876740.1

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