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SNP ID: rs199897938
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:24428790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAGATGGCCCCACTGGTGCCATTGC[C/T]GGTTTCCCCTGCTGGCTCATGGTGG
Phenotype: MIM: 612978
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CBLN3 PubMed Links

Gene Details

Gene: CBLN3
Gene Name: cerebellin 3 precursor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039771.2	736	Missense Mutation	AGC,GGC	S89G	NP_001034860.1

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	736	Intron			NP_001277185.1
NM_001290257.1	736	Intron			NP_001277186.1
NM_015299.2	736	Intron			NP_056114.1
XM_005267474.4	736	Intron			XP_005267531.1
XM_011536590.2	736	Intron			XP_011534892.1
XM_017021114.1	736	Intron			XP_016876603.1

Gene: NYNRIN
Gene Name: NYN domain and retroviral integrase containing

There are no transcripts associated with this gene.

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