Product Details

SNP ID

rs199986163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66523746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGGAAGAAGCTGTGGACAGTGC[A/G]GATGCCCGCAGCCATCCTGACCATG

Phenotype

MIM: 209901

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBS1 PubMed Links

Gene Details

Gene

BBS1

Gene Name

Bardet-Biedl syndrome 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024649.4	986	Missense Mutation	CAG,CGG	Q325R	NP_078925.3

Gene

ZDHHC24

Gene Name

zinc finger DHHC-type containing 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207340.1	986	Intron			NP_997223.1
XM_005273874.3	986	Intron			XP_005273931.1
XM_011544893.2	986	Intron			XP_011543195.1
XM_011544894.1	986	Intron			XP_011543196.1

View Full Product Details