Product Details

SNP ID

rs147977339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57977889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTATGCCTCCCCGGCCATCCTG[C/T]TTCCCATGGAGCGGCAGCGCAACCA

Phenotype

MIM: 600724 MIM: 610264

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CNGB1 PubMed Links

Gene Details

Gene

CNGB1

Gene Name

cyclic nucleotide gated channel beta 1

There are no transcripts associated with this gene.

Gene

TEPP

Gene Name

testis, prostate and placenta expressed

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199046.2	275	Missense Mutation	CTT,TTT	L80F	NP_950247.2
NM_199456.2	275	Missense Mutation	CTT,TTT	L80F	NP_955535.2
XM_017023218.1	275	Missense Mutation	CTT,TTT	L25F	XP_016878707.1

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