Product Details

SNP ID

rs142623306

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101064558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGGCTGCAGATCCAGGCTGTG[A/C]GTCCCAGTGATGAGGGCACTTACCG

Phenotype

MIM: 609208

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

KAZALD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11190812] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

KAZALD1

Gene Name

Kazal type serine peptidase inhibitor domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319303.1	1655	Missense Mutation	AGT,CGT	S106R	NP_001306232.1
NM_030929.4	1655	Missense Mutation	AGT,CGT	S244R	NP_112191.2
XM_005270194.3	1655	UTR 3			XP_005270251.1
XM_017016714.1	1655	Missense Mutation	AGT,CGT	S244R	XP_016872203.1
XM_017016715.1	1655	Missense Mutation	AGT,CGT	S244R	XP_016872204.1

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