Product Details

SNP ID

rs140313670

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:128773720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTGGAGAAGAATGAAGGAATGG[C/T]GACAAGCCGTAAGTCCAGCCCATGG

Phenotype

MIM: 603420 MIM: 613522

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CALU PubMed Links

Gene Details

Gene

CALU

Gene Name

calumenin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130674.2	856	Intron			NP_001124146.1
NM_001199671.1	856	Intron			NP_001186600.1
NM_001199672.1	856	Intron			NP_001186601.1
NM_001199673.1	856	Intron			NP_001186602.1
NM_001219.4	856	Intron			NP_001210.1
XM_017012659.1	856	Intron			XP_016868148.1

Gene

OPN1SW

Gene Name

opsin 1 (cone pigments), short-wave-sensitive

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001708.2	856	Missense Mutation			NP_001699.1

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