Product Details

SNP ID

rs201192044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82766283 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGATAGGTTCGAGGCTATAAAA[C/G]ATTTCTTCGTTTATTTCCTCATGAA

Phenotype

MIM: 604649

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TBCD PubMed Links

Gene Details

Gene

TBCD

Gene Name

tubulin folding cofactor D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005993.4	458	Missense Mutation	ACA,AGA	T117R	NP_005984.3
XM_005256396.4	458	Missense Mutation	ACA,AGA	T100R	XP_005256453.1
XM_005256399.4	458	Intron			XP_005256456.1
XM_005256404.4	458	Intron			XP_005256461.1
XM_006722290.2	458	Missense Mutation	ACA,AGA	T117R	XP_006722353.1
XM_006722291.3	458	Intron			XP_006722354.1
XM_006722292.2	458	Intron			XP_006722355.1
XM_011523589.1	458	Intron			XP_011521891.1
XM_011523590.1	458	Missense Mutation	ACA,AGA	T117R	XP_011521892.1
XM_011523591.1	458	Intron			XP_011521893.1
XM_011523593.1	458	Intron			XP_011521895.1
XM_011523594.1	458	Intron			XP_011521896.1
XM_011523595.2	458	Intron			XP_011521897.1
XM_011523597.2	458	Intron			XP_011521899.1
XM_011523598.1	458	Intron			XP_011521900.1
XM_011523599.2	458	Intron			XP_011521901.1
XM_011523600.2	458	Intron			XP_011521902.1
XM_017024987.1	458	Missense Mutation	ACA,AGA	T54R	XP_016880476.1
XM_017024988.1	458	Missense Mutation	ACA,AGA	T117R	XP_016880477.1
XM_017024989.1	458	Intron			XP_016880478.1
XM_017024990.1	458	Intron			XP_016880479.1

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