Product Details

SNP ID

rs143488120

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76531610 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGGCGTGCTTCCGCAGCTGGGG[A/G]CTCCGCTCCATCTCCAGGGGATCCT

Phenotype

MIM: 608759 MIM: 610598

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CYGB PubMed Links

Gene Details

Gene

CYGB

Gene Name

cytoglobin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_134268.4	235	Silent Mutation	AGC,AGT	S75S	NP_599030.1
XM_005257005.2	235	Silent Mutation	AGC,AGT	S75S	XP_005257062.1
XM_017024116.1	235	Silent Mutation	AGC,AGT	S10S	XP_016879605.1

Gene

PRCD

Gene Name

progressive rod-cone degeneration

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077620.2	235	Intron			NP_001071088.1
XM_017025013.1	235	Intron			XP_016880502.1
XM_017025014.1	235	Intron			XP_016880503.1
XM_017025015.1	235	Intron			XP_016880504.1

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