Product Details

SNP ID

rs200901327

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:1917976 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTAGGCCCGAGGCCCCAAGGAGA[A/G]GGCTGGGTTTCTGGGAGAGTGCTGG

Phenotype

MIM: 610171

Polymorphism

A/G, 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	572	Intron			XP_005244786.2
XM_011540841.2	572	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	572	Missense Mutation	CCT,CTT	P179L	NP_848640.1

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