Product Details

SNP ID

rs2706793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:121828281 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAATCTGTAATTCCTATTTAAAAT[G/T]AAAAACAGAAGCACCTTAATATTCA

Phenotype

MIM: 607590 MIM: 123835

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BBS7 PubMed Links

Gene Details

Gene

BBS7

Gene Name

Bardet-Biedl syndrome 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018190.3		Intron			NP_060660.2
NM_176824.2		Intron			NP_789794.1
XM_005263106.3		Intron			XP_005263163.1
XM_011532079.2		Intron			XP_011530381.1
XM_011532080.2		Intron			XP_011530382.1
XM_011532081.2		Intron			XP_011530383.1
XM_017008357.1		Intron			XP_016863846.1
XM_017008358.1		Intron			XP_016863847.1

Gene

CCNA2

Gene Name

cyclin A2

There are no transcripts associated with this gene.

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