Product Details

SNP ID

rs148223868

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32117094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTTAACTGGAGGTGACTTCTTC[C/T]GTGGCTGAGACTTCTGGAAGGAGAA

Phenotype

MIM: 600984 MIM: 600985

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATF6B PubMed Links

Gene Details

Gene

ATF6B

Gene Name

activating transcription factor 6 beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136153.1	1661	Missense Mutation	CAG,CGG	Q540R	NP_001129625.1
NM_004381.4	1661	Missense Mutation	CAG,CGG	Q543R	NP_004372.3

Gene

TNXB

Gene Name

tenascin XB

There are no transcripts associated with this gene.

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