Product Details

SNP ID

rs34282921

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48373572 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACCGACGGCTACCAGAACAAGA[C/T]GGAGTCTCCGCAGCTCCACTGCATT

Phenotype

MIM: 131235 MIM: 608373

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KDELR1 PubMed Links

Gene Details

Gene

KDELR1

Gene Name

KDEL endoplasmic reticulum protein retention receptor 1

There are no transcripts associated with this gene.

Gene

SYNGR4

Gene Name

synaptogyrin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012451.3	634	Missense Mutation	ACG,ATG	T50M	NP_036583.2
XM_005258693.2	634	Missense Mutation	ACG,ATG	T50M	XP_005258750.1
XM_005258694.2	634	Missense Mutation	ACG,ATG	T50M	XP_005258751.1
XM_011526686.2	634	Missense Mutation	ACG,ATG	T1M	XP_011524988.1
XM_017026541.1	634	Missense Mutation	ACG,ATG	T1M	XP_016882030.1

Gene

TMEM143

Gene Name

transmembrane protein 143

There are no transcripts associated with this gene.

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