Product Details

SNP ID

rs72919915

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:121879956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAACAAAGAGTGAAATTCTTACA[A/G]TATCAATGTATTTGCTTCATAAGGT

Phenotype

MIM: 607590 MIM: 602345

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBS7 PubMed Links

Gene Details

Gene

BBS7

Gene Name

Bardet-Biedl syndrome 7

There are no transcripts associated with this gene.

Gene

TRPC3

Gene Name

transient receptor potential cation channel subfamily C member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130698.1		Intron			NP_001124170.1
NM_003305.2		Intron			NP_003296.1
XM_011532217.2		Intron			XP_011530519.1
XM_011532218.2		Intron			XP_011530520.1
XM_017008578.1		Intron			XP_016864067.1
XM_017008579.1		Intron			XP_016864068.1

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