Product Details

SNP ID

rs2231510

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50465329 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCGGCCAGCTTTCTTGGACCTCTTG[A/G]TGGGGAACTTGCAGCTGCGGAAGGC

Phenotype

MIM: 610465 MIM: 602178

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACSF2 PubMed Links

Gene Details

Gene

ACSF2

Gene Name

acyl-CoA synthetase family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288968.1	2117	Intron			NP_001275897.1
NM_001288969.1	2117	Intron			NP_001275898.1
NM_001288970.1	2117	Intron			NP_001275899.1
NM_001288971.1	2117	Intron			NP_001275900.1
NM_001288972.1	2117	Intron			NP_001275901.1
NM_025149.5	2117	Intron			NP_079425.3
XM_006722110.3	2117	Intron			XP_006722173.1
XM_011525294.1	2117	Intron			XP_011523596.1

Gene

CHAD

Gene Name

chondroadherin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267.2	2117	Missense Mutation	ACC,ATC	T350I	NP_001258.2
XM_011524214.2	2117	Missense Mutation	ACC,ATC	T431I	XP_011522516.1

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