Product Details

SNP ID

rs61740767

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:39276988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGATTCTAATCTTTATGGTTTT[C/T]CATGGGAATTGGTGATATGTGCAGC

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	454	Missense Mutation	CCA,TCA	P11S	NP_001234917.1
NM_001247989.1	454	Missense Mutation	CCA,TCA	P40S	NP_001234918.1
NM_001247990.1	454	Intron			NP_001234919.1
NM_005930.3	454	Missense Mutation	CCA,TCA	P40S	NP_005921.2
NM_203354.2	454	Missense Mutation	CCA,TCA	P28S	NP_976229.1
NM_203355.2	454	Missense Mutation	CCA,TCA	P40S	NP_976230.1
NM_203356.2	454	Missense Mutation	CCA,TCA	P11S	NP_976231.1
XM_005267648.4	454	Intron			XP_005267705.1
XM_006720148.2	454	Intron			XP_006720211.1
XM_011536775.2	454	Intron			XP_011535077.1
XM_011536778.2	454	Intron			XP_011535080.1
XM_011536784.2	454	Intron			XP_011535086.1
XM_011536785.2	454	Intron			XP_011535087.1
XM_017021314.1	454	Intron			XP_016876803.1
XM_017021315.1	454	Intron			XP_016876804.1
XM_017021316.1	454	Intron			XP_016876805.1
XM_017021317.1	454	Missense Mutation	CCA,TCA	P11S	XP_016876806.1
XM_017021318.1	454	Intron			XP_016876807.1
XM_017021319.1	454	Intron			XP_016876808.1
XM_017021320.1	454	Intron			XP_016876809.1
XM_017021321.1	454	Intron			XP_016876810.1
XM_017021322.1	454	Intron			XP_016876811.1
XM_017021323.1	454	Intron			XP_016876812.1
XM_017021324.1	454	Intron			XP_016876813.1
XM_017021325.1	454	Intron			XP_016876814.1
XM_017021326.1	454	Intron			XP_016876815.1
XM_017021327.1	454	Intron			XP_016876816.1
XM_017021328.1	454	Intron			XP_016876817.1
XM_017021329.1	454	Intron			XP_016876818.1
XM_017021330.1	454	Intron			XP_016876819.1

Gene

LOC100288846

Gene Name

uncharacterized LOC100288846

There are no transcripts associated with this gene.

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