Product Details

SNP ID

rs1131347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:178206812 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGCTATGAAGAAGGACCCGGT[C/G]AAGAAAATCTTCGTTGGGGGTCTGA

Phenotype

MIM: 602688 MIM: 614683

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HNRNPAB PubMed Links

Gene Details

Gene

HNRNPAB

Gene Name

heterogeneous nuclear ribonucleoprotein A/B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004499.3	716	Silent Mutation	GTC,GTG	V153V	NP_004490.2
NM_031266.2	716	Silent Mutation	GTC,GTG	V153V	NP_112556.2

Gene

PHYKPL

Gene Name

5-phosphohydroxy-L-lysine phospho-lyase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278346.1	716	Intron			NP_001265275.1
NM_153373.3	716	Intron			NP_699204.1

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