Product Details

SNP ID: rs146846385
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:6641174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATGGCAAGACCATTTTCGCCTACT[G/T]TACGGGTTCTAAGGACGCCGGGGGG
Phenotype: MIM: 616967
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: KIAA0753 PubMed Links

Gene Details

Gene: KIAA0753
Gene Name: KIAA0753

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014804.2	273	Intron			NP_055619.2
XM_006721612.2	273	Intron			XP_006721675.1
XM_011524090.2	273	Intron			XP_011522392.1
XM_011524091.2	273	Intron			XP_011522393.1
XM_011524095.2	273	Intron			XP_011522397.1
XM_011524096.1	273	Intron			XP_011522398.1
XM_011524098.2	273	Intron			XP_011522400.1
XM_011524099.2	273	Intron			XP_011522401.1
XM_011524100.2	273	Intron			XP_011522402.1
XM_017025455.1	273	Intron			XP_016880944.1
XM_017025456.1	273	Intron			XP_016880945.1
XM_017025457.1	273	Intron			XP_016880946.1

Gene: MED31
Gene Name: mediator complex subunit 31

There are no transcripts associated with this gene.

Gene: TXNDC17
Gene Name: thioredoxin domain containing 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032731.3	273	Missense Mutation	TGT,TTT	C31F	NP_116120.1

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