Product Details

SNP ID

rs11166

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:68207005 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTAACACCACTTGGGGCTGTGAC[C/T]GTATTTACTTCATTCTTGAATCCCG

Phenotype

MIM: 606725

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CALML4 PubMed Links

Gene Details

Gene

CALML4

Gene Name

calmodulin like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031733.2	2229	Intron			NP_001026903.2
NM_001286694.1	2229	Intron			NP_001273623.1
NM_001286695.1	2229	Intron			NP_001273624.1
NM_033429.2	2229	Intron			NP_219501.2

Gene

CLN6

Gene Name

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017882.2	2229	UTR 3			NP_060352.1

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