Product Details

SNP ID: rs199587799
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:63833617 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CATCAAGGGAGGCGATCTCCTGCTG[A/T]TTGGTGGTAGAGGCCAGAAAATTGC
Phenotype: MIM: 601681 MIM: 601736
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: FTSJ3 PubMed Links

Gene Details

Gene: FTSJ3
Gene Name: FtsJ homolog 3

There are no transcripts associated with this gene.

Gene: PSMC5
Gene Name: proteasome 26S subunit, ATPase 5

There are no transcripts associated with this gene.

Gene: SMARCD2
Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098426.1	1151	Missense Mutation	AAA,AAT	K429N	NP_001091896.1
XM_005257604.2	1151	Missense Mutation	AAA,AAT	K354N	XP_005257661.2
XM_017024967.1	1151	Missense Mutation	AAA,AAT	K381N	XP_016880456.1

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