Product Details

SNP ID

rs144317760

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:24143230 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAACATCAACCAGTTTGCAGCAG[C/G]TTATTTTCAAGAACTTACTATGTAT

Phenotype

MIM: 612135

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CABYR PubMed Links

Gene Details

Gene

CABYR

Gene Name

calcium binding tyrosine phosphorylation regulated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308231.1	303	Intron			NP_001295160.1
NM_012189.3	303	Missense Mutation	GCT,GGT	A39G	NP_036321.2
NM_138643.2	303	Intron			NP_619584.1
NM_138644.2	303	Missense Mutation	GCT,GGT	A39G	NP_619585.1
NM_153768.2	303	Missense Mutation	GCT,GGT	A39G	NP_722452.1
NM_153769.2	303	Missense Mutation	GCT,GGT	A39G	NP_722453.1
NM_153770.2	303	Missense Mutation	GCT,GGT	A39G	NP_722454.1
XM_005258247.2	303	Missense Mutation	GCT,GGT	A39G	XP_005258304.1
XM_017025706.1	303	Missense Mutation	GCT,GGT	A39G	XP_016881195.1

Gene

TTC39C

Gene Name

tetratricopeptide repeat domain 39C

There are no transcripts associated with this gene.

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