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SNP ID

rs117969623

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:113195640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTCTCCTTGTCCTTTGCTTTGC[C/T]CTTGCCCCGCTTCTTCTTGGATCTG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IQCD PubMed Links

Gene Details

Gene

IQCD

Gene Name

IQ motif containing D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138451.2	946	Missense Mutation	AGC,GGC	S327G	NP_612460.1
XM_005253832.4	946	Missense Mutation	AGC,GGC	S429G	XP_005253889.1
XM_005253833.4	946	Missense Mutation	AGC,GGC	S429G	XP_005253890.1
XM_005253834.4	946	Missense Mutation	AGC,GGC	S248G	XP_005253891.1
XM_011537862.2	946	Missense Mutation	AGC,GGC	S429G	XP_011536164.1
XM_011537863.2	946	Missense Mutation	AGC,GGC	S429G	XP_011536165.1
XM_011537864.1	946	Missense Mutation	AGC,GGC	S351G	XP_011536166.1
XM_011537865.2	946	Missense Mutation	AGC,GGC	S170G	XP_011536167.1
XM_011537866.2	946	Missense Mutation	AGC,GGC	S89G	XP_011536168.1
XM_017018771.1	946	Missense Mutation	AGC,GGC	S146G	XP_016874260.1

Gene

RITA1

Gene Name

RBPJ interacting and tubulin associated 1

There are no transcripts associated with this gene.

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