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SNP ID: rs188940530
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:24440202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCCAGCAGCATGATGGCACGCTGTC[A/G]CCCAAAGACAGCTTGCACCACAGCG
Phenotype: MIM: 616162
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: KHNYN PubMed Links

Gene Details

Gene: KHNYN
Gene Name: KH and NYN domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290256.1	755	UTR 3			NP_001277185.1
NM_001290257.1	755	UTR 3			NP_001277186.1
NM_015299.2	755	UTR 3			NP_056114.1
XM_005267474.4	755	UTR 3			XP_005267531.1
XM_011536590.2	755	UTR 3			XP_011534892.1
XM_017021114.1	755	Intron			XP_016876603.1

Gene: LOC101927045
Gene Name: uncharacterized LOC101927045

There are no transcripts associated with this gene.

Gene: SDR39U1
Gene Name: short chain dehydrogenase/reductase family 39U member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290292.1	755	Nonsense Mutation	CGA,TGA	R173*	NP_001277221.1
NM_001290293.2	755	Nonsense Mutation	CGA,TGA	R147*	NP_001277222.1
NM_001308075.1	755	Nonsense Mutation	CGA,TGA	R173*	NP_001295004.1
NM_020195.2	755	Nonsense Mutation	CGA,TGA	R255*	NP_064580.2
XM_011536975.1	755	Nonsense Mutation	CGA,TGA	R278*	XP_011535277.1
XM_011536976.1	755	Nonsense Mutation	CGA,TGA	R213*	XP_011535278.1

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