Product Details

SNP ID

rs16823066

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169482299 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGTCCTTATTGATTGTTTAGATTC[C/T]ATTGAAGACACCAAAGGAAATAATG

Phenotype

MIM: 603650

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BBS5 PubMed Links

Gene Details

Gene

BBS5

Gene Name

Bardet-Biedl syndrome 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152384.2	166	Silent Mutation	TCC,TCT	S36S	NP_689597.1

View Full Product Details