Product Details

SNP ID

rs189164775

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48629892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACATCTGTGTCCGGACCACCAC[A/G]AGCAGCAGGGAGAAGATGACCGCAA

Phenotype

MIM: 604264 MIM: 610068

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CELSR3 PubMed Links

Gene Details

Gene

CELSR3

Gene Name

cadherin EGF LAG seven-pass G-type receptor 3

There are no transcripts associated with this gene.

Gene

MIR6824

Gene Name

microRNA 6824

There are no transcripts associated with this gene.

Gene

SLC26A6

Gene Name

solute carrier family 26 member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040454.1	1609	Silent Mutation	CTC,CTT	L482L	NP_001035544.1
NM_001281732.1	1609	Silent Mutation	CTC,CTT	L467L	NP_001268661.1
NM_001281733.1	1609	Silent Mutation	CTC,CTT	L396L	NP_001268662.1
NM_022911.2	1609	Silent Mutation	CTC,CTT	L503L	NP_075062.2
NM_134263.2	1609	Silent Mutation	CTC,CTT	L503L	NP_599025.2
NM_134426.2	1609	Silent Mutation	CTC,CTT	L503L	NP_602298.2

Gene

TMEM89

Gene Name

transmembrane protein 89

There are no transcripts associated with this gene.

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