Product Details

SNP ID

rs11190812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101064535 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACCCCAGAGGTTTGAGGTGACTG[A/G]CTGGCTGCAGATCCAGGCTGTGCGT

Phenotype

MIM: 609208

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KAZALD1 PubMed Links

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	1632	Missense Mutation	GAC,GGC	D98G	NP_001306232.1
NM_030929.4	1632	Missense Mutation	GAC,GGC	D236G	NP_112191.2
XM_005270194.3	1632	UTR 3			XP_005270251.1
XM_017016714.1	1632	Missense Mutation	GAC,GGC	D236G	XP_016872203.1
XM_017016715.1	1632	Missense Mutation	GAC,GGC	D236G	XP_016872204.1

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