Product Details

SNP ID
rs147645341
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43046482 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGCAGTCTGGGATTTCACCATTC[A/G]GGACGGCGATGTTGAGGGTGTCATT
Phenotype
MIM: 608955
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC100506679 PubMed Links

Gene Details

Gene
LOC100506679
Gene Name
uncharacterized LOC100506679
There are no transcripts associated with this gene.

Gene
TTLL1
Gene Name
tubulin tyrosine ligase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012263.4 1338 Missense Mutation CCG,CTG P357L NP_036395.1
XM_006724225.3 1338 Missense Mutation CCG,CTG P260L XP_006724288.1
XM_011530108.2 1338 Missense Mutation CCG,CTG P319L XP_011528410.1
XM_011530110.2 1338 Missense Mutation CCG,CTG P243L XP_011528412.1
XM_017028751.1 1338 Missense Mutation CCG,CTG P357L XP_016884240.1
XM_017028752.1 1338 Missense Mutation CCG,CTG P357L XP_016884241.1
XM_017028753.1 1338 Missense Mutation CCG,CTG P319L XP_016884242.1

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