Product Details

SNP ID

rs148423012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:56470679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACCACTGATATCACTGAAGAAGG[A/G]ACTAGCCATAGTCCTCCTGAGCCAG

Phenotype

MIM: 606151 MIM: 615857

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBS2 PubMed Links

Gene Details

Gene

BBS2

Gene Name

Bardet-Biedl syndrome 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031885.3	1341	Intron			NP_114091.3
XM_005256080.2	1341	Intron			XP_005256137.1

Gene

OGFOD1

Gene Name

2-oxoglutarate and iron dependent oxygenase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324357.1	1341	Silent Mutation	GGA,GGG	G390G	NP_001311286.1
NM_001324358.1	1341	Silent Mutation	GGA,GGG	G336G	NP_001311287.1
NM_001324359.1	1341	Silent Mutation	GGA,GGG	G294G	NP_001311288.1
NM_001324360.1	1341	Silent Mutation	GGA,GGG	G294G	NP_001311289.1
NM_001324361.1	1341	Silent Mutation	GGA,GGG	G336G	NP_001311290.1
NM_001324362.1	1341	Silent Mutation	GGA,GGG	G251G	NP_001311291.1
NM_001324363.1	1341	Silent Mutation	GGA,GGG	G353G	NP_001311292.1
NM_018233.3	1341	Silent Mutation	GGA,GGG	G391G	NP_060703.3

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