Product Details

SNP ID

rs2048243

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:110125122 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACCACAAGACCTGAAAAGCCAAGA[G/A]GATTTTCCATCTATAGCCCTTCCCA

Phenotype

MIM: 602022 MIM: 607100

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

MALL PubMed Links

Gene Details

Gene

MALL

Gene Name

mal, T-cell differentiation protein like

There are no transcripts associated with this gene.

Gene

NPHP1

Gene Name

nephrocystin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000272.3		Intron			NP_000263.2
NM_001128178.1		Intron			NP_001121650.1
NM_001128179.1		Intron			NP_001121651.1
NM_207181.2		Intron			NP_997064.2
XM_005263676.1		Intron			XP_005263733.1
XM_005263677.1		Intron			XP_005263734.1
XM_005263678.2		Intron			XP_005263735.1
XM_005263679.1		Intron			XP_005263736.1
XM_006712551.1		Intron			XP_006712614.1
XM_006712552.2		Intron			XP_006712615.1
XM_011511244.1		Intron			XP_011509546.1
XM_017004218.1		Intron			XP_016859707.1

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