Product Details

SNP ID

rs143977007

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:186551153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTGTCTGCATGTAAGATCCTTA[G/T]CCAGCTGCTTGTTTGGAGCCTGCTG

Phenotype

MIM: 123730

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CRYGS PubMed Links

Gene Details

Gene

CRYGS

Gene Name

crystallin gamma S

There are no transcripts associated with this gene.

Gene

TBCCD1

Gene Name

TBCC domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134415.1	1772	Silent Mutation	GGA,GGC	G557G	NP_001127887.1
NM_001286749.1	1772	Silent Mutation	GGA,GGC	G461G	NP_001273678.1
NM_018138.4	1772	Intron			NP_060608.1

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