Product Details

SNP ID: rs183437348
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:6427485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTACTGGCCCGTCCGACGCAAGGTC[A/C]ACCGCGTCTTCAGCACCTGAGGATG
Phenotype: MIM: 603445 MIM: 608746 MIM: 610822
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: KHSRP PubMed Links

Gene Details

Gene: KHSRP
Gene Name: KH-type splicing regulatory protein

There are no transcripts associated with this gene.

Gene: SLC25A23
Gene Name: solute carrier family 25 member 23

There are no transcripts associated with this gene.

Gene: SLC25A41
Gene Name: solute carrier family 25 member 41

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321298.1	521	Missense Mutation	TGG,TTG	W76L	NP_001308227.1
NM_173637.3	521	Missense Mutation	TGG,TTG	W214L	NP_775908.2
XM_011527926.1	521	Missense Mutation	TGG,TTG	W150L	XP_011526228.1

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