Product Details

SNP ID

rs13152253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:122702989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTAAAAATTTTGTTCCACAATT[A/G]TTATAGTAAAGTATAAAACTTTTAT

Phenotype

MIM: 610683

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBS12 PubMed Links

Gene Details

Gene

BBS12

Gene Name

Bardet-Biedl syndrome 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178007.1		Intron			NP_001171478.1
NM_152618.2		Intron			NP_689831.2
XM_011531680.2		Intron			XP_011529982.1
XM_017007831.1		Intron			XP_016863320.1

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