Product Details

SNP ID

rs145720655

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:76356650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTTAATTTCTTCCTGTGTTTGT[G/T]TTATAGATTCGATGGAACTCTGAAT

Phenotype

MIM: 610148 MIM: 606736

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BBS10 PubMed Links

Gene Details

Gene

BBS10

Gene Name

Bardet-Biedl syndrome 10

There are no transcripts associated with this gene.

Gene

OSBPL8

Gene Name

oxysterol binding protein like 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003712.1	3091	Missense Mutation	AAA,ACA	K796T	NP_001003712.1
NM_001319652.1	3091	Missense Mutation	AAA,ACA	K796T	NP_001306581.1
NM_001319653.1	3091	Missense Mutation	AAA,ACA	K835T	NP_001306582.1
NM_001319655.1	3091	Missense Mutation	AAA,ACA	K813T	NP_001306584.1
NM_020841.4	3091	Missense Mutation	AAA,ACA	K838T	NP_065892.1
XM_005268621.4	3091	Missense Mutation	AAA,ACA	K838T	XP_005268678.1
XM_006719224.2	3091	Missense Mutation	AAA,ACA	K796T	XP_006719287.1
XM_011537855.2	3091	Missense Mutation	AAA,ACA	K848T	XP_011536157.1
XM_011537856.2	3091	Missense Mutation	AAA,ACA	K851T	XP_011536158.1
XM_011537857.2	3091	Missense Mutation	AAA,ACA	K851T	XP_011536159.1
XM_017018768.1	3091	Missense Mutation	AAA,ACA	K861T	XP_016874257.1
XM_017018769.1	3091	Missense Mutation	AAA,ACA	K835T	XP_016874258.1

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