Product Details

SNP ID

rs140385095

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:81101216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTTCCAGGCTCCTCTCTCTT[A/C]GACTTAATGCCCAGGAAACTGAGTA

Phenotype

MIM: 238330 MIM: 607894

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GCSH PubMed Links

Gene Details

Gene

GCSH

Gene Name

glycine cleavage system protein H

There are no transcripts associated with this gene.

Gene

PKD1L2

Gene Name

polycystin 1 like 2 (gene/pseudogene)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001076780.1	7287	Intron			NP_001070248.1
NM_001278423.1	7287	Intron			NP_001265352.1
NM_001278425.1	7287	Silent Mutation	TCG,TCT	S1744S	NP_001265354.1
NM_052892.3	7287	Silent Mutation	TCG,TCT	S2429S	NP_443124.3

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