Product Details

SNP ID

rs139700832

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:113323314 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATTTAATTCAGGAGATGAATTCT[C/G]ATGACCCAGTTGTGCAACAGAAAGC

Phenotype

MIM: 610732

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TTC12 PubMed Links

Gene Details

Gene

TTC12

Gene Name

tetratricopeptide repeat domain 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318533.1	190	Missense Mutation	CAT,GAT	H29D	NP_001305462.1
NM_017868.3	190	Missense Mutation	CAT,GAT	H29D	NP_060338.3
XM_005271604.3	190	Missense Mutation	CAT,GAT	H29D	XP_005271661.1
XM_011542890.2	190	UTR 5			XP_011541192.1
XM_017017943.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873432.1
XM_017017944.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873433.1
XM_017017945.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873434.1
XM_017017946.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873435.1
XM_017017947.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873436.1
XM_017017948.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873437.1
XM_017017949.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873438.1
XM_017017950.1	190	Missense Mutation	CAT,GAT	H29D	XP_016873439.1

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