Product Details

SNP ID

rs200758120

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:94306136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTTGCCTGGTTGGTGAACAAGT[A/C]TGCAATGCCCATTTCCTCCAGCACA

Phenotype

MIM: 122500

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SERPINA6 PubMed Links

Gene Details

Gene

SERPINA6

Gene Name

serpin family A member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001756.3	1071	Missense Mutation	GAC,TAC	D323Y	NP_001747.2

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