Product Details

SNP ID
rs201398321
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:39276977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGTATGAGACCAGATTCTAATC[C/T]TTATGGTTTTCCATGGGAATTGGTG
Phenotype
MIM: 602132
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CTAGE5 PubMed Links

Gene Details

Gene
CTAGE5
Gene Name
CTAGE family member 5, ER export factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001247988.1 443 Missense Mutation CCT,CTT P7L NP_001234917.1
NM_001247989.1 443 Missense Mutation CCT,CTT P36L NP_001234918.1
NM_001247990.1 443 Intron NP_001234919.1
NM_005930.3 443 Missense Mutation CCT,CTT P36L NP_005921.2
NM_203354.2 443 Missense Mutation CCT,CTT P24L NP_976229.1
NM_203355.2 443 Missense Mutation CCT,CTT P36L NP_976230.1
NM_203356.2 443 Missense Mutation CCT,CTT P7L NP_976231.1
XM_005267648.4 443 Intron XP_005267705.1
XM_006720148.2 443 Intron XP_006720211.1
XM_011536775.2 443 Intron XP_011535077.1
XM_011536778.2 443 Intron XP_011535080.1
XM_011536784.2 443 Intron XP_011535086.1
XM_011536785.2 443 Intron XP_011535087.1
XM_017021314.1 443 Intron XP_016876803.1
XM_017021315.1 443 Intron XP_016876804.1
XM_017021316.1 443 Intron XP_016876805.1
XM_017021317.1 443 Missense Mutation CCT,CTT P7L XP_016876806.1
XM_017021318.1 443 Intron XP_016876807.1
XM_017021319.1 443 Intron XP_016876808.1
XM_017021320.1 443 Intron XP_016876809.1
XM_017021321.1 443 Intron XP_016876810.1
XM_017021322.1 443 Intron XP_016876811.1
XM_017021323.1 443 Intron XP_016876812.1
XM_017021324.1 443 Intron XP_016876813.1
XM_017021325.1 443 Intron XP_016876814.1
XM_017021326.1 443 Intron XP_016876815.1
XM_017021327.1 443 Intron XP_016876816.1
XM_017021328.1 443 Intron XP_016876817.1
XM_017021329.1 443 Intron XP_016876818.1
XM_017021330.1 443 Intron XP_016876819.1
Gene
LOC100288846
Gene Name
uncharacterized LOC100288846
There are no transcripts associated with this gene.

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