Product Details

SNP ID

rs201358563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24081247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTCTGAACGGCTCAGAGGAAGA[A/G]GTGGGAGGGGTCCCCGGACCCGGGG

Phenotype

MIM: 605688 MIM: 162080

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPNE6 PubMed Links

Gene Details

Gene

CPNE6

Gene Name

copine 6

There are no transcripts associated with this gene.

Gene

NRL

Gene Name

neural retina leucine zipper

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006177.3	618	Missense Mutation	CTC,TTC	L235F	NP_006168.1
XM_005267708.4	618	Missense Mutation	CTC,TTC	L235F	XP_005267765.1
XM_005267709.3	618	Missense Mutation	CTC,TTC	L235F	XP_005267766.1
XM_005267710.3	618	Missense Mutation	CTC,TTC	L235F	XP_005267767.1
XM_011536801.2	618	Missense Mutation	CTC,TTC	L337F	XP_011535103.2
XM_011536802.1	618	Missense Mutation	CTC,TTC	L235F	XP_011535104.1
XM_011536804.2	618	Missense Mutation	CTC,TTC	L235F	XP_011535106.1
XM_011536805.2	618	Missense Mutation	CTC,TTC	L235F	XP_011535107.1
XM_011536806.2	618	Missense Mutation	CTC,TTC	L232F	XP_011535108.2
XM_017021350.1	618	Missense Mutation	CTC,TTC	L130F	XP_016876839.1

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