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SNP ID

rs75422596

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:241631875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTCTTTCTCCTGCAGCGCCTAC[A/G]CTCTCTAACAGTGAATGTTAGTAGA

Phenotype

MIM: 118825 MIM: 606695

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHML PubMed Links

Gene Details

Gene

CHML

Gene Name

CHM like, Rab escort protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001821.3	4056	UTR 3			NP_001812.2

Gene

OPN3

Gene Name

opsin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014322.2	4056	Intron			NP_055137.2

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