Product Details

SNP ID

rs190832700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:75663171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAATGCCAATCGTGATGGCCCGG[A/G]ACCTGGAGGAAACAGCATCATCCTC

Phenotype

MIM: 604576 MIM: 612268

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C14orf1 PubMed Links

Gene Details

Gene

C14orf1

Gene Name

chromosome 14 open reading frame 1

There are no transcripts associated with this gene.

Gene

TTLL5

Gene Name

tubulin tyrosine ligase like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015072.4	297	Missense Mutation	AAC,GAC	N8D	NP_055887.3

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