Product Details

SNP ID

rs138543733

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23048420 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTCTCTCGGACGTCCTCCTCCT[C/T]CAGTACCATCAGTGCTTCTTGCTTC

Phenotype

MIM: 611137

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDH24 PubMed Links

Gene Details

Gene

CDH24

Gene Name

cadherin 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022478.3	2280	Missense Mutation	AAG,GAG	K674E	NP_071923.2
NM_144985.3	2280	Missense Mutation	AAG,GAG	K636E	NP_659422.2
XM_011537089.1	2280	Intron			XP_011535391.1

Gene

LOC105370705

Gene Name

collagen alpha-2(I) chain-like

There are no transcripts associated with this gene.

Gene

PSMB11

Gene Name

proteasome subunit beta 11

There are no transcripts associated with this gene.

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