Product Details

SNP ID: rs141967299
Assay Type: Functionally tested
NCBI dbSNP Submissions: 9
Location: Chr.1:1918040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCTTGGCCATCTTGACAGCTTCAT[C/T]GTAGGAGGGTGGAGGCTCCGGGGTG
Phenotype: MIM: 610171
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CALML6 PubMed Links

Gene Details

Gene: CALML6
Gene Name: calmodulin like 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005244729.3	508	Intron			XP_005244786.2
XM_011540841.2	508	Intron			XP_011539143.1

Gene: CFAP74
Gene Name: cilia and flagella associated protein 74

There are no transcripts associated with this gene.

Gene: TMEM52
Gene Name: transmembrane protein 52

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178545.3	508	Missense Mutation	AAT,GAT	N158D	NP_848640.1

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