Product Details

SNP ID

rs141716652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:118282084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGGCCGTTCACACATGAGTGGT[C/T]CTCCGCTGTCTCCCTGGCAGCTGTC

Phenotype

MIM: 606709

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRSS12 PubMed Links

Gene Details

Gene

PRSS12

Gene Name

protease, serine 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003619.3	2527	Missense Mutation	GAA,GGA	E827G	NP_003610.2
XM_005263318.4	2527	Intron			XP_005263375.1
XM_011532387.2	2527	Intron			XP_011530689.1

Gene

SNHG8

Gene Name

small nucleolar RNA host gene 8

There are no transcripts associated with this gene.

Gene

SNORA24

Gene Name

small nucleolar RNA, H/ACA box 24

There are no transcripts associated with this gene.

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