Product Details

SNP ID

rs150356689

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:1916555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCTGGAGTGGCTCATGAGCCTG[C/G]TGGGTATCAACCCCACCAAGAGTGA

Phenotype

MIM: 610171

Polymorphism

C/G, Transversion 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	1789	Missense Mutation	CTG,GTG	L87V	XP_005244786.2
XM_011540841.2	1789	Missense Mutation	CTG,GTG	L48V	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

There are no transcripts associated with this gene.

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